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
Autor*in: |
Guo, Liwei [verfasserIn] Li, Duan [verfasserIn] Dong, Shuangshuang [verfasserIn] Wang, Donghao [verfasserIn] Yang, Baosheng [verfasserIn] Huang, Yanmei [verfasserIn] |
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Sprache: |
Englisch |
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2017 |
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Übergeordnetes Werk: |
Enthalten in: Journal of Genetics - Springer India, 1955, 96(2017), 2 vom: Juni, Seite 389-392 |
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Übergeordnetes Werk: |
volume:96 ; year:2017 ; number:2 ; month:06 ; pages:389-392 |
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DOI / URN: |
10.1007/s12041-017-0786-7 |
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Katalog-ID: |
SPR024544779 |
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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 | |
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700 | 1 | |a Huang, Yanmei |e verfasserin |4 aut | |
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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 |
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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 |
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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 |
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Enthalten in Journal of Genetics 96(2017), 2 vom: Juni, Seite 389-392 volume:96 year:2017 number:2 month:06 pages:389-392 |
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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. 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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 |
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mutation analysis of col4a3 and col4a4 genes in a chinese autosomal-dominant alport syndrome family |
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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. |
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Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family |
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