A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Wu, Xing [verfasserIn] Chen, Lanlan Zhang, Yixin Xie, Hainan Xue, Meirong Wang, Yi Huang, Houbin

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	VHL Missense mutation W117R

Anmerkung:	© The Author(s). 2018

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 19(2018), 1 vom: 26. Nov.
Übergeordnetes Werk:	volume:19 ; year:2018 ; number:1 ; day:26 ; month:11

Links:	Volltext

DOI / URN:	10.1186/s12881-018-0716-4

Katalog-ID:	SPR02750039X

Internformat


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520			\|a Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family.
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author_variant	x w xw l c lc y z yz h x hx m x mx y w yw h h hh
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allfields	10.1186/s12881-018-0716-4 doi (DE-627)SPR02750039X (SPR)s12881-018-0716-4-e DE-627 ger DE-627 rakwb eng Wu, Xing verfasserin aut A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. VHL (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 W117R (dpeaa)DE-He213 Chen, Lanlan aut Zhang, Yixin aut Xie, Hainan aut Xue, Meirong aut Wang, Yi aut Huang, Houbin (orcid)0000-0002-4700-4477 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 26. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:26 month:11 https://dx.doi.org/10.1186/s12881-018-0716-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 26 11
spelling	10.1186/s12881-018-0716-4 doi (DE-627)SPR02750039X (SPR)s12881-018-0716-4-e DE-627 ger DE-627 rakwb eng Wu, Xing verfasserin aut A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. VHL (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 W117R (dpeaa)DE-He213 Chen, Lanlan aut Zhang, Yixin aut Xie, Hainan aut Xue, Meirong aut Wang, Yi aut Huang, Houbin (orcid)0000-0002-4700-4477 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 26. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:26 month:11 https://dx.doi.org/10.1186/s12881-018-0716-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 26 11
allfields_unstemmed	10.1186/s12881-018-0716-4 doi (DE-627)SPR02750039X (SPR)s12881-018-0716-4-e DE-627 ger DE-627 rakwb eng Wu, Xing verfasserin aut A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. VHL (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 W117R (dpeaa)DE-He213 Chen, Lanlan aut Zhang, Yixin aut Xie, Hainan aut Xue, Meirong aut Wang, Yi aut Huang, Houbin (orcid)0000-0002-4700-4477 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 26. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:26 month:11 https://dx.doi.org/10.1186/s12881-018-0716-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 26 11
allfieldsGer	10.1186/s12881-018-0716-4 doi (DE-627)SPR02750039X (SPR)s12881-018-0716-4-e DE-627 ger DE-627 rakwb eng Wu, Xing verfasserin aut A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. VHL (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 W117R (dpeaa)DE-He213 Chen, Lanlan aut Zhang, Yixin aut Xie, Hainan aut Xue, Meirong aut Wang, Yi aut Huang, Houbin (orcid)0000-0002-4700-4477 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 26. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:26 month:11 https://dx.doi.org/10.1186/s12881-018-0716-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 26 11
allfieldsSound	10.1186/s12881-018-0716-4 doi (DE-627)SPR02750039X (SPR)s12881-018-0716-4-e DE-627 ger DE-627 rakwb eng Wu, Xing verfasserin aut A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. VHL (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 W117R (dpeaa)DE-He213 Chen, Lanlan aut Zhang, Yixin aut Xie, Hainan aut Xue, Meirong aut Wang, Yi aut Huang, Houbin (orcid)0000-0002-4700-4477 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 26. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:26 month:11 https://dx.doi.org/10.1186/s12881-018-0716-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 26 11
language	English
source	Enthalten in BMC medical genetics 19(2018), 1 vom: 26. Nov. volume:19 year:2018 number:1 day:26 month:11
sourceStr	Enthalten in BMC medical genetics 19(2018), 1 vom: 26. Nov. volume:19 year:2018 number:1 day:26 month:11
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institution	findex.gbv.de
topic_facet	VHL Missense mutation W117R
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container_title	BMC medical genetics
authorswithroles_txt_mv	Wu, Xing @@aut@@ Chen, Lanlan @@aut@@ Zhang, Yixin @@aut@@ Xie, Hainan @@aut@@ Xue, Meirong @@aut@@ Wang, Yi @@aut@@ Huang, Houbin @@aut@@
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spellingShingle	Wu, Xing misc VHL misc Missense mutation misc W117R A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
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topic_title	A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease VHL (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 W117R (dpeaa)DE-He213
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title	A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
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title_full	A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
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author_browse	Wu, Xing Chen, Lanlan Zhang, Yixin Xie, Hainan Xue, Meirong Wang, Yi Huang, Houbin
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title_sort	novel mutation in the vhl gene in a chinese family with von hippel-lindau disease
title_auth	A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
abstract	Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. © The Author(s). 2018
abstractGer	Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. © The Author(s). 2018
abstract_unstemmed	Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. © The Author(s). 2018
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title_short	A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
url	https://dx.doi.org/10.1186/s12881-018-0716-4
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author2	Chen, Lanlan Zhang, Yixin Xie, Hainan Xue, Meirong Wang, Yi Huang, Houbin
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up_date	2024-07-04T02:08:28.648Z
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The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. 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A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

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