Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II

Lei Zheng; Yousheng Yan; Xue Chert; Chuan Zhang; Qinghua Zhang; Xuan Feng; Shengju Hao

doi:10.3760/cma.j.issn.1003-9406.2018.01.018

Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II

Lei Zheng, Yousheng Yan, Xue Chert, Chuan Zhang, Qinghua Zhang, Xuan Feng, Shengju Hao

Center for Medical Genetics and Primary Health Care

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Objective: To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. Methods Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. Results: A c. 127 C>T (p. R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. Conclusion: The c. 127 C>T (p. R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.

Original language	English
Pages (from-to)	81-83
Number of pages	3
Journal	Chinese Journal of Medical Genetics
Volume	35
Issue number	1
DOIs	https://doi.org/10.3760/cma.j.issn.1003-9406.2018.01.018
State	Published - Feb 2018
Externally published	Yes

Keywords

Hearing loss
SOX10 gene
Warrdenburg syndrome type II

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10.3760/cma.j.issn.1003-9406.2018.01.018

Cite this

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title = "Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II",

abstract = "Objective: To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. Methods Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. Results: A c. 127 C>T (p. R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. Conclusion: The c. 127 C>T (p. R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.",

keywords = "Hearing loss, SOX10 gene, Warrdenburg syndrome type II",

author = "Lei Zheng and Yousheng Yan and Xue Chert and Chuan Zhang and Qinghua Zhang and Xuan Feng and Shengju Hao",

year = "2018",

month = feb,

doi = "10.3760/cma.j.issn.1003-9406.2018.01.018",

language = "英语",

volume = "35",

pages = "81--83",

journal = "Chinese Journal of Medical Genetics",

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TY - JOUR

T1 - Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II

AU - Zheng, Lei

AU - Yan, Yousheng

AU - Chert, Xue

AU - Zhang, Chuan

AU - Zhang, Qinghua

AU - Feng, Xuan

AU - Hao, Shengju

PY - 2018/2

Y1 - 2018/2

N2 - Objective: To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. Methods Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. Results: A c. 127 C>T (p. R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. Conclusion: The c. 127 C>T (p. R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.

AB - Objective: To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. Methods Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. Results: A c. 127 C>T (p. R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. Conclusion: The c. 127 C>T (p. R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.

KW - Hearing loss

KW - SOX10 gene

KW - Warrdenburg syndrome type II

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U2 - 10.3760/cma.j.issn.1003-9406.2018.01.018

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JO - Chinese Journal of Medical Genetics

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Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II

Abstract

Keywords

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