Journal of Tissue Engineering and Reconstructive Surgery >

2019 , Vol. 15 >Issue 3: 152 - 175

DOI: https://doi.org/10.3969/j.issn.1673-0364.2019.03.006

Original article

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

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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

Cite this article

GUO Ruiji,HAN Gang,FANG Xia,SUN Bin,CUI Henqing,ZHOU Shengbo,SUN Wenhai,WANG Bin . GNAS New Missense Mutation Leads to D/E Type Brachydactyly[J]. Journal of Tissue Engineering and Reconstructive Surgery, 2019 , 15(3) : 152 -175 . DOI: 10.3969/j.issn.1673-0364.2019.03.006

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