[7例瓦登伯革氏综合征患者的突变分析]
[Mutation analysis of seven patients with Waardenburg syndrome].
作者信息
Hao Ziqi, Zhou Yongan, Li Pengli, Zhang Quanbin, Li Jiao, Wang Pengfei, Li Xiangshao, Feng Yong
机构信息
Department of Center Laboratory, Taiyuan Central Hospital, Taiyuan, Shanxi 030009, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):312-5. doi: 10.3760/cma.j.issn.1003-9406.2016.03.007.
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.
CONCLUSION
Genetic mutations have been detected in all patients with Waardenburg syndrome.
目的
对7例瓦登伯革氏综合征患者进行基因分析。
方法
采用聚合酶链反应和直接测序法筛选MITF、PAX3、SOX10和SNAI2基因的潜在突变。使用PolyPhen2软件预测非同义多态性的功能。
结果
在患者中检测到7种突变，包括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）和c.28G>T（p.G43V）。其中，PAX3基因的4种突变（c.72delG、c.185T>C、c.118C>T和c.128G>T）和1种SOX10基因突变（c.422T>C）此前未见报道。3种非同义单核苷酸多态性（c.185T>C、c.128G>T和c.422T>C）被预测为有害。
结论
在所有瓦登伯革氏综合征患者中均检测到基因突变。
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