一例眼齿指发育不良患者的GJA1基因突变研究  

A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia

作　　者：曾晖 谢立[1] 唐幂[1] 杨一峰[1] 谭志平[1] Zeng Hui, Xie Li, Tang Mi, Yang Yifeng , Tan Zhiping(Department of Cardiovascular Surgery, the Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, Chin)

机构地区：[1]中南大学湘雅二医院心血管外科,长沙410011

出　　处：《中华医学遗传学杂志》2018年第2期268-271,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81470445）

摘　　要：【摘要】目的探讨1例眼齿指发育不良患者的发病机制。方法采集患者及其父母的外周血样，提取全基因组DNA，进行全外显子测序，分别按显性遗传模式和隐性遗传模式筛选候选致病基因，用Sanger测序进行验证。结果在患者中发现一个新发GJA1错义突变c．412G〉A，患者父母均未携带此突变，该突变导致编码的第138位氨基酸由甘氨酸变成丝氨酸（p．G138S），并经Sanger测序证实。该变异已被人类基因突变数据库收录（CM030464），可导致眼齿指发育不良。结论GJA1错义突变c．412G〉A可能为该眼齿指发育不良患者的致病原因。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.

关 键 词：眼齿指发育不良 GJA1基因 连接蛋白 外显子测序 并指 

分 类 号：R596[医药卫生—内科学]