Clinical and genetic analysis of a patient with cutis laxa.

VernacularTitle:一例皮肤松弛症患儿的临床与遗传学分析
Author: Pingping ZHANG ¹ ; Xin WANG ; Zhijie GAO ; Xiaoyan LIU ; Qian CHEN
Author Information

1. Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China. Email: gaozhijie20082008@163.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2018;35(1):100-103
CountryChina
Language:Chinese
Abstract: 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.