[两个II型瓦登伯革氏综合征家系的临床分型与基因突变研究]
[Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].
作者信息
Chen Yong, Yang Fuwei, Zheng Hexin, Zhu Ganghua, Hu Peng, Wu Weijing
机构信息
Key Laboratory of Genetics and Birth Health of Hunan Province, the Family Planning Institute of Hunan Province, Changsha, Hunan 410126, P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):810-3. doi: 10.3760/cma.j.issn.1003-9406.2015.06.012.
OBJECTIVE
To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling.
METHODS
Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations.
RESULTS
A heterozygous deletional mutation c.649_651delAGA in exon 7 of the MITF gene has been identified in all patients from the first family, while no mutation was found in the other WS2 related genes including PAX3, MITF, SOX10 and SNAI2.
CONCLUSION
The heterozygous deletion mutation c.649_651delAGA in exon 7 of the MITF gene probably underlies the disease in the first family. It is expected that other genes may also underlie WS2.
目的
探究两个患II型瓦登伯革氏综合征（WS2）家系的分子病因，并提供基因诊断与遗传咨询。
方法
采集先证者及其家庭成员的血样。提取基因组DNA后，采用聚合酶链反应（PCR）扩增PAX3、MITF、SOX10和SNAI2基因的编码序列，并进行DNA测序以检测潜在突变。
结果
在第一个家系的所有患者中均鉴定出MITF基因第7外显子的杂合缺失突变c.649_651delAGA，而在包括PAX3、MITF、SOX10和SNAI2在内的其他WS2相关基因中未发现突变。
结论
MITF基因第7外显子的杂合缺失突变c.649_651delAGA可能是第一个家系患病的原因。预计其他基因也可能是WS2的病因。
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