组织工程与重建外科杂志

组织工程与重建外科杂志 ›› 2019, Vol. 15 ›› Issue (3): 152-175.doi: 10.3969/j.issn.1673-0364.2019.03.006

• 论著 • 上一篇    下一篇

GNAS新错义突变导致D/E型短指畸形

郭芮吉，韩刚，方霞，孙滨，崔恒庆，周晟博，孙文海，王斌   

  1. 上海交通大学医学院附属第九人民医院整复外科
  • 收稿日期:2019-03-20 修回日期:2019-05-04 出版日期:2019-06-20 发布日期:2019-06-20
  • 作者简介:王斌,E-mail:wangbin1766@163.com。

GNAS New Missense Mutation Leads to D/E Type Brachydactyly

GUO Ruiji,HAN Gang,FANG Xia,SUN Bin,CUI Henqing,ZHOU Shengbo,SUN Wenhai,WANG Bin   

  • Received:2019-03-20 Revised:2019-05-04 Online:2019-06-20 Published:2019-06-20
  • Contact: 国家自然科学基金(81571930，81772115)

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。

关键词: 短指畸形, 全外显子测序, GNAS基因

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.

Key words: Brachydactyly, Whole genome sequencing, GNAS gene

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