| 一例眼齿指发育不良患者的GJA1基因突变研究CSCD |
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| 引用本文： | 曾晖谢立唐幂杨一峰谭志平.一例眼齿指发育不良患者的GJA1基因突变研究CSCD[J].中华医学遗传学杂志,2018(2):268-271. |
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| 作者姓名： | 曾晖谢立唐幂杨一峰谭志平 |
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| 作者单位： | 1.中南大学湘雅二医院心血管外科410011; |
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| 基金项目： | 国家自然科学基金（81470445） |
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| 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。
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| 关 键 词： | 眼齿指发育不良 GJA1基因 连接蛋白 外显子测序 并指 |
A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasiaCSCD |
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| Institution: | 1.Department of Cardiovascular Surgery, Second Xiangya Hospital of Central South University, Changsha, Hunan410011; |
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| Abstract: | 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 GJAl gene was identified in the patient, which was validated by Sanger sequencing. Conclusion The c. 412G> A mutation of the GJAl gene probably underlies the disease in the patient. © 2018 West China University of Medical Sciences. All rights reserved. |
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| Keywords: | Connexin Gja1 genet Oculodentodigital dysplasia Syndactyly Whole-exome sequencing |
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