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 Articles     Next 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:2019-03-20 Revised:2019-05-04 Online:2019-06-20 Published: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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