Mutation analysis of seven patients with Waardenburg syndrome.
- VernacularTitle:七例Waardenburg综合征患者基因突变分析
- Author:
Ziqi HAO
1
,
2
,
3
;
Yongan ZHOU
;
Pengli LI
;
Quanbin ZHANG
;
Jiao LI
;
Pengfei WANG
;
Xiangshao LI
;
Yong FENG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Child; Female; Humans; Male; Microphthalmia-Associated Transcription Factor; genetics; Mutation; PAX3 Transcription Factor; Paired Box Transcription Factors; genetics; Polymorphism, Single Nucleotide; SOXE Transcription Factors; genetics; Waardenburg Syndrome; genetics
- From: Chinese Journal of Medical Genetics 2016;33(3):312-315
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo perform genetic analysis for 7 patients with Waardenburg syndrome.
METHODSPotential 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.
RESULTSSeven 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.
CONCLUSIONGenetic mutations have been detected in all patients with Waardenburg syndrome.
