论著

GNAS新错义突变导致D/E型短指畸形

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  • 上海交通大学医学院附属第九人民医院整复外科
王斌,E-mail:wangbin1766@163.com。

收稿日期: 2019-03-20

  修回日期: 2019-05-04

  网络出版日期: 2019-06-20

GNAS New Missense Mutation Leads to D/E Type Brachydactyly

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Received date: 2019-03-20

  Revised date: 2019-05-04

  Online published: 2019-06-20

摘要

目的 对我国一个短指家系进行致病基因进行鉴定。方法 应用全外显子测序对该短指家系进行基因突变检测,并用Sanger测序对突变位点进行验证。结果 该家系共有3名患者,均为短指表型,符合常染色体显性遗传。全外显子检测提示患者均存在GNAS基因(NM_001077488:exon13:c.A1145T:p.D382V)杂合错义突变,Sanger测序验证与全外显子结果一致。结论 GNAS基因第13号外显子上c.A1145T杂合错义突变是该短指家系的致病原因。

本文引用格式

郭芮吉,韩刚,方霞,孙滨,崔恒庆,周晟博,孙文海,王斌 . GNAS新错义突变导致D/E型短指畸形[J]. 组织工程与重建外科杂志, 2019 , 15(3) : 152 -175 . DOI: 10.3969/j.issn.1673-0364.2019.03.006

Abstract

Objective To identify pathogenic mutation in a Chinese pedigree affected by brachydactyly.Methods The mutation was identified by whole exome sequencing(WES)and confirmed by Sanger sequencing.Results There were 3 brachydactyly patients in this pedigree,which was autosomal dominant inheritance.WES revealed a heterozygous missense mutation within GNAS gene(NM_001077488:exon13:c.A1145T:p.D382V).This mutation was verified by Sanger sequencing.Conclusion The heterozygous missense GNAS mutation(c.A1145T)causes the brachydactyly in this pedigree.
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