[Mutation analysis of seven patients with Waardenburg syndrome].
OBJECTIVE
To perform genetic analysis for 7 patients with Waardenburg syndrome.


METHODS
Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software.


RESULTS
Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful.


CONCLUSIONS
Genetic mutations have been detected in all patients with Waardenburg syndrome.
Department of Center Laboratory, Taiyuan Central Hospital, Taiyuan, Shanxi 030009, China. zya655903@163.com; fengyong_hn@hotmail.com.
Ziqi
Z
Hao
Yongan
Y
Zhou
Pengli
P
Li
Quanbin
Q
Zhang
Jiao
J
Li
Pengfei
P
Wang
Xiangshao
X
Li
Yong
Y
Feng
D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D055757:SOXE Transcription Factors / Q000235:genetics; D014849:Waardenburg Syndrome / Q000235:genetics*
C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors