Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family

Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. I...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Guo, Liwei [verfasserIn] Li, Duan [verfasserIn] Dong, Shuangshuang [verfasserIn] Wang, Donghao [verfasserIn] Yang, Baosheng [verfasserIn] Huang, Yanmei [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2017

Schlagwörter:	autosomal-dominant Alport syndrome mutation detection

Übergeordnetes Werk:	Enthalten in: Journal of Genetics - Springer India, 1955, 96(2017), 2 vom: Juni, Seite 389-392
Übergeordnetes Werk:	volume:96 ; year:2017 ; number:2 ; month:06 ; pages:389-392

Links:	Volltext

DOI / URN:	10.1007/s12041-017-0786-7

Katalog-ID:	SPR024544779

Internformat


LEADER	01000caa a22002652 4500
001	SPR024544779
003	DE-627
005	20201125071148.0
007	cr uuu---uuuuu
008	201006s2017 xx \|\|\|\|\|o 00\| \|\|eng c
024	7		\|a 10.1007/s12041-017-0786-7 \|2 doi
035			\|a (DE-627)SPR024544779
035			\|a (SPR)s12041-017-0786-7-e
040			\|a DE-627 \|b ger \|c DE-627 \|e rakwb
041			\|a eng
100	1		\|a Guo, Liwei \|e verfasserin \|4 aut
245	1	0	\|a Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
264		1	\|c 2017
336			\|a Text \|b txt \|2 rdacontent
337			\|a Computermedien \|b c \|2 rdamedia
338			\|a Online-Ressource \|b cr \|2 rdacarrier
520			\|a Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS.
650		4	\|a autosomal-dominant Alport syndrome \|7 (dpeaa)DE-He213
650		4	\|a mutation detection \|7 (dpeaa)DE-He213
700	1		\|a Li, Duan \|e verfasserin \|4 aut
700	1		\|a Dong, Shuangshuang \|e verfasserin \|4 aut
700	1		\|a Wang, Donghao \|e verfasserin \|4 aut
700	1		\|a Yang, Baosheng \|e verfasserin \|4 aut
700	1		\|a Huang, Yanmei \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Journal of Genetics \|d Springer India, 1955 \|g 96(2017), 2 vom: Juni, Seite 389-392 \|w (DE-627)SPR024069582 \|7 nnns
773	1	8	\|g volume:96 \|g year:2017 \|g number:2 \|g month:06 \|g pages:389-392
856	4	0	\|u https://dx.doi.org/10.1007/s12041-017-0786-7 \|z lizenzpflichtig \|3 Volltext
912			\|a GBV_USEFLAG_A
912			\|a SYSFLAG_A
912			\|a GBV_SPRINGER
912			\|a GBV_ILN_11
912			\|a GBV_ILN_20
912			\|a GBV_ILN_21
912			\|a GBV_ILN_22
912			\|a GBV_ILN_23
912			\|a GBV_ILN_24
912			\|a GBV_ILN_30
912			\|a GBV_ILN_31
912			\|a GBV_ILN_32
912			\|a GBV_ILN_40
912			\|a GBV_ILN_65
912			\|a GBV_ILN_70
912			\|a GBV_ILN_2002
912			\|a GBV_ILN_2004
912			\|a GBV_ILN_2008
912			\|a GBV_ILN_2009
912			\|a GBV_ILN_2012
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2015
912			\|a GBV_ILN_2018
912			\|a GBV_ILN_2021
912			\|a GBV_ILN_2088
912			\|a GBV_ILN_2190
912			\|a GBV_ILN_2244
951			\|a AR
952			\|d 96 \|j 2017 \|e 2 \|c 06 \|h 389-392

Indexfelder

author_variant	l g lg d l dl s d sd d w dw b y by y h yh
matchkey_str	guoliweiliduandongshuangshuangwangdongha:2017----:uainnlssfo43nclagnsncieeuooadmn
hierarchy_sort_str	2017
publishDate	2017
allfields	10.1007/s12041-017-0786-7 doi (DE-627)SPR024544779 (SPR)s12041-017-0786-7-e DE-627 ger DE-627 rakwb eng Guo, Liwei verfasserin aut Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS. autosomal-dominant Alport syndrome (dpeaa)DE-He213 mutation detection (dpeaa)DE-He213 Li, Duan verfasserin aut Dong, Shuangshuang verfasserin aut Wang, Donghao verfasserin aut Yang, Baosheng verfasserin aut Huang, Yanmei verfasserin aut Enthalten in Journal of Genetics Springer India, 1955 96(2017), 2 vom: Juni, Seite 389-392 (DE-627)SPR024069582 nnns volume:96 year:2017 number:2 month:06 pages:389-392 https://dx.doi.org/10.1007/s12041-017-0786-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_21 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_30 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_65 GBV_ILN_70 GBV_ILN_2002 GBV_ILN_2004 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2012 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2021 GBV_ILN_2088 GBV_ILN_2190 GBV_ILN_2244 AR 96 2017 2 06 389-392
spelling	10.1007/s12041-017-0786-7 doi (DE-627)SPR024544779 (SPR)s12041-017-0786-7-e DE-627 ger DE-627 rakwb eng Guo, Liwei verfasserin aut Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS. autosomal-dominant Alport syndrome (dpeaa)DE-He213 mutation detection (dpeaa)DE-He213 Li, Duan verfasserin aut Dong, Shuangshuang verfasserin aut Wang, Donghao verfasserin aut Yang, Baosheng verfasserin aut Huang, Yanmei verfasserin aut Enthalten in Journal of Genetics Springer India, 1955 96(2017), 2 vom: Juni, Seite 389-392 (DE-627)SPR024069582 nnns volume:96 year:2017 number:2 month:06 pages:389-392 https://dx.doi.org/10.1007/s12041-017-0786-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_21 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_30 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_65 GBV_ILN_70 GBV_ILN_2002 GBV_ILN_2004 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2012 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2021 GBV_ILN_2088 GBV_ILN_2190 GBV_ILN_2244 AR 96 2017 2 06 389-392
allfields_unstemmed	10.1007/s12041-017-0786-7 doi (DE-627)SPR024544779 (SPR)s12041-017-0786-7-e DE-627 ger DE-627 rakwb eng Guo, Liwei verfasserin aut Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS. autosomal-dominant Alport syndrome (dpeaa)DE-He213 mutation detection (dpeaa)DE-He213 Li, Duan verfasserin aut Dong, Shuangshuang verfasserin aut Wang, Donghao verfasserin aut Yang, Baosheng verfasserin aut Huang, Yanmei verfasserin aut Enthalten in Journal of Genetics Springer India, 1955 96(2017), 2 vom: Juni, Seite 389-392 (DE-627)SPR024069582 nnns volume:96 year:2017 number:2 month:06 pages:389-392 https://dx.doi.org/10.1007/s12041-017-0786-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_21 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_30 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_65 GBV_ILN_70 GBV_ILN_2002 GBV_ILN_2004 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2012 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2021 GBV_ILN_2088 GBV_ILN_2190 GBV_ILN_2244 AR 96 2017 2 06 389-392
allfieldsGer	10.1007/s12041-017-0786-7 doi (DE-627)SPR024544779 (SPR)s12041-017-0786-7-e DE-627 ger DE-627 rakwb eng Guo, Liwei verfasserin aut Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS. autosomal-dominant Alport syndrome (dpeaa)DE-He213 mutation detection (dpeaa)DE-He213 Li, Duan verfasserin aut Dong, Shuangshuang verfasserin aut Wang, Donghao verfasserin aut Yang, Baosheng verfasserin aut Huang, Yanmei verfasserin aut Enthalten in Journal of Genetics Springer India, 1955 96(2017), 2 vom: Juni, Seite 389-392 (DE-627)SPR024069582 nnns volume:96 year:2017 number:2 month:06 pages:389-392 https://dx.doi.org/10.1007/s12041-017-0786-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_21 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_30 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_65 GBV_ILN_70 GBV_ILN_2002 GBV_ILN_2004 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2012 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2021 GBV_ILN_2088 GBV_ILN_2190 GBV_ILN_2244 AR 96 2017 2 06 389-392
allfieldsSound	10.1007/s12041-017-0786-7 doi (DE-627)SPR024544779 (SPR)s12041-017-0786-7-e DE-627 ger DE-627 rakwb eng Guo, Liwei verfasserin aut Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS. autosomal-dominant Alport syndrome (dpeaa)DE-He213 mutation detection (dpeaa)DE-He213 Li, Duan verfasserin aut Dong, Shuangshuang verfasserin aut Wang, Donghao verfasserin aut Yang, Baosheng verfasserin aut Huang, Yanmei verfasserin aut Enthalten in Journal of Genetics Springer India, 1955 96(2017), 2 vom: Juni, Seite 389-392 (DE-627)SPR024069582 nnns volume:96 year:2017 number:2 month:06 pages:389-392 https://dx.doi.org/10.1007/s12041-017-0786-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_21 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_30 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_65 GBV_ILN_70 GBV_ILN_2002 GBV_ILN_2004 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2012 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2021 GBV_ILN_2088 GBV_ILN_2190 GBV_ILN_2244 AR 96 2017 2 06 389-392
language	English
source	Enthalten in Journal of Genetics 96(2017), 2 vom: Juni, Seite 389-392 volume:96 year:2017 number:2 month:06 pages:389-392
sourceStr	Enthalten in Journal of Genetics 96(2017), 2 vom: Juni, Seite 389-392 volume:96 year:2017 number:2 month:06 pages:389-392
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	autosomal-dominant Alport syndrome mutation detection
isfreeaccess_bool	false
container_title	Journal of Genetics
authorswithroles_txt_mv	Guo, Liwei @@aut@@ Li, Duan @@aut@@ Dong, Shuangshuang @@aut@@ Wang, Donghao @@aut@@ Yang, Baosheng @@aut@@ Huang, Yanmei @@aut@@
publishDateDaySort_date	2017-06-01T00:00:00Z
hierarchy_top_id	SPR024069582
id	SPR024544779
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR024544779</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20201125071148.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201006s2017 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s12041-017-0786-7</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR024544779</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s12041-017-0786-7-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Guo, Liwei</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2017</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">autosomal-dominant Alport syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">mutation detection</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Li, Duan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Dong, Shuangshuang</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wang, Donghao</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Yang, Baosheng</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Huang, Yanmei</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Journal of Genetics</subfield><subfield code="d">Springer India, 1955</subfield><subfield code="g">96(2017), 2 vom: Juni, Seite 389-392</subfield><subfield code="w">(DE-627)SPR024069582</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:96</subfield><subfield code="g">year:2017</subfield><subfield code="g">number:2</subfield><subfield code="g">month:06</subfield><subfield code="g">pages:389-392</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://dx.doi.org/10.1007/s12041-017-0786-7</subfield><subfield code="z">lizenzpflichtig</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_SPRINGER</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_21</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_30</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_31</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_32</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_70</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2002</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2004</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2008</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2009</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2015</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2018</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2021</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2088</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2190</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2244</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">96</subfield><subfield code="j">2017</subfield><subfield code="e">2</subfield><subfield code="c">06</subfield><subfield code="h">389-392</subfield></datafield></record></collection>
author	Guo, Liwei
spellingShingle	Guo, Liwei misc autosomal-dominant Alport syndrome misc mutation detection Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
authorStr	Guo, Liwei
ppnlink_with_tag_str_mv	@@773@@(DE-627)SPR024069582
format	electronic Article
delete_txt_mv	keep
author_role	aut aut aut aut aut aut
collection	springer
remote_str	true
illustrated	Not Illustrated
topic_title	Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family autosomal-dominant Alport syndrome (dpeaa)DE-He213 mutation detection (dpeaa)DE-He213
topic	misc autosomal-dominant Alport syndrome misc mutation detection
topic_unstemmed	misc autosomal-dominant Alport syndrome misc mutation detection
topic_browse	misc autosomal-dominant Alport syndrome misc mutation detection
format_facet	Elektronische Aufsätze Aufsätze Elektronische Ressource
format_main_str_mv	Text Zeitschrift/Artikel
carriertype_str_mv	cr
hierarchy_parent_title	Journal of Genetics
hierarchy_parent_id	SPR024069582
hierarchy_top_title	Journal of Genetics
isfreeaccess_txt	false
familylinks_str_mv	(DE-627)SPR024069582
title	Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
ctrlnum	(DE-627)SPR024544779 (SPR)s12041-017-0786-7-e
title_full	Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
author_sort	Guo, Liwei
journal	Journal of Genetics
journalStr	Journal of Genetics
lang_code	eng
isOA_bool	false
recordtype	marc
publishDateSort	2017
contenttype_str_mv	txt
container_start_page	389
author_browse	Guo, Liwei Li, Duan Dong, Shuangshuang Wang, Donghao Yang, Baosheng Huang, Yanmei
container_volume	96
format_se	Elektronische Aufsätze
author-letter	Guo, Liwei
doi_str_mv	10.1007/s12041-017-0786-7
author2-role	verfasserin
title_sort	mutation analysis of col4a3 and col4a4 genes in a chinese autosomal-dominant alport syndrome family
title_auth	Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
abstract	Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS.
abstractGer	Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS.
abstract_unstemmed	Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS.
collection_details	GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_21 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_30 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_65 GBV_ILN_70 GBV_ILN_2002 GBV_ILN_2004 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2012 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2021 GBV_ILN_2088 GBV_ILN_2190 GBV_ILN_2244
container_issue	2
title_short	Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
url	https://dx.doi.org/10.1007/s12041-017-0786-7
remote_bool	true
author2	Li, Duan Dong, Shuangshuang Wang, Donghao Yang, Baosheng Huang, Yanmei
author2Str	Li, Duan Dong, Shuangshuang Wang, Donghao Yang, Baosheng Huang, Yanmei
ppnlink	SPR024069582
mediatype_str_mv	c
isOA_txt	false
hochschulschrift_bool	false
doi_str	10.1007/s12041-017-0786-7
up_date	2024-07-04T01:23:06.192Z
_version_	1803609635497705472
fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR024544779</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20201125071148.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201006s2017 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s12041-017-0786-7</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR024544779</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s12041-017-0786-7-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Guo, Liwei</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2017</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicity-matched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutation showed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11 C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">autosomal-dominant Alport syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">mutation detection</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Li, Duan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Dong, Shuangshuang</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wang, Donghao</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Yang, Baosheng</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Huang, Yanmei</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Journal of Genetics</subfield><subfield code="d">Springer India, 1955</subfield><subfield code="g">96(2017), 2 vom: Juni, Seite 389-392</subfield><subfield code="w">(DE-627)SPR024069582</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:96</subfield><subfield code="g">year:2017</subfield><subfield code="g">number:2</subfield><subfield code="g">month:06</subfield><subfield code="g">pages:389-392</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://dx.doi.org/10.1007/s12041-017-0786-7</subfield><subfield code="z">lizenzpflichtig</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_SPRINGER</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_21</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_30</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_31</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_32</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_70</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2002</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2004</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2008</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2009</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2015</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2018</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2021</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2088</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2190</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2244</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">96</subfield><subfield code="j">2017</subfield><subfield code="e">2</subfield><subfield code="c">06</subfield><subfield code="h">389-392</subfield></datafield></record></collection>
score	7.4004526

Nicht das Richtige dabei?

Schreiben Sie uns!

Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family

Nicht das Richtige dabei?

Zugang & Verfügbarkeit

Vorhandene Bände

Nicht das Richtige dabei?