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      https://www.ias.ac.in/article/fulltext/jgen/096/04/0647-0652

    • Keywords

       

      HOXA13 gene; hand-foot-genital syndrome; missense mutation

    • Abstract

       

      Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identifycausative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS. We performed Sanger sequencing and identified a recurrent missense mutation in the homeodomain (c.1123G>T, p.V375F) of HOXA13, molecular modelling predicted the mutation would affect DNA binding, and a luciferase reporter assay indicated that it impaired the ability ofHOXA13 to activate transcription of the human EPHA7 promoter. This is the first report of the molecular basis for HFGS caused by missense mutations of HOXA13.

    • Author Affiliations

       

      LIHUA CAO1 CHEN CHEN1 YUNJI LENG1 LULU YAN1 SHUSEN WANG1 XUE ZHANG1 2 YANG LUO1

      1. The Research Center for Medical Genomics, Key Laboratory of Cell Biology,Ministry of Public Health, Key Laboratory of Medical Cell Biology,Ministry of Education, China Medical University, Shenyang, 110122, People’s Republic of China
      2. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine Peking Union Medical College, Beijing 100005, People’s Republic of China
    • Dates

       
  • Journal of Genetics | News

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