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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):81-83. 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].

[Article in Chinese]

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Center of Medical Genetics, Maternal and Child Health Care Hospital of Gansu Province, Lanzhou, Gansu 730050, China. Email:


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.127C>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.127C>T (p.R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.

[Indexed for MEDLINE]

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