外显子组测序
桑格测序
皮肤松弛
外显子组
突变
遗传学
基因检测
DNA测序
遗传咨询
复合杂合度
医学
生物
生物信息学
先证者
弹性蛋白
基因
作者
Pingping Zhang,Xin Wang,Zhijie Gao,Xiaoyan Liu,Qian Chen
出处
期刊:PubMed
日期:2018-02-10
卷期号:35 (1): 100-103
标识
DOI:10.3760/cma.j.issn.1003-9406.2018.01.023
摘要
OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Suspected mutations were verified by Sanger sequencing. RESULTS Exome sequencing identified a compound heterozygous mutation of the ATP6V0A2 gene, c.187C>T (p.R63X) and c.1189G>C (p.A397P), in the proband. The mutations were respectively inherited from the father and mother. The patient was diagnosed with autosomal recessive cutis laxa type 2A (ARCL2A). CONCLUSION A case with ARCL2A was diagnosed. The novel mutation has expanded the spectrum of ATP6V0A2 mutations. Exome sequencing is a useful tool for the diagnosis of complex genetic diseases.
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