Journal of Tissue Engineering and Reconstructive Surgery››2019,Vol. 15››Issue (3): 152-175.doi:10.3969/j.issn.1673-0364.2019.03.006

• Original article •Previous ArticlesNext Articles

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

    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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