[通过全外显子组测序在一名眼牙指发育不良患者中鉴定出的新发GJA1突变]
[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].
作者信息
Zeng Hui, Xie Li, Tang Mi, Yang Yifeng, Tan Zhiping
机构信息
Department of Cardiovascular Surgery, the Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):268-271. doi: 10.3760/cma.j.issn.1003-9406.2018.02.028.
OBJECTIVE
To explore the genetic basis for a patient with oculodentodigital dysplasia.
METHODS
Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.
RESULTS
A de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.
CONCLUSION
The c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.
目的
探究一名眼牙指发育异常患者的遗传基础。
方法
从患者及其父母的外周血样本中提取基因组DNA。对这个三联体家庭进行全外显子组测序。通过桑格测序验证疑似突变。
结果
在患者中鉴定出GJA1基因的一个新发c.412G>A突变，该突变通过桑格测序得到验证。
结论
GJA1基因的c.412G>A突变可能是该患者疾病的病因。
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