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      https://www.ias.ac.in/article/fulltext/jgen/100/0058

    • Keywords

       

      Charcot-Marie-Tooth type 4A; autosomal recessive; GDAP1 gene; compound mutation.

    • Abstract

       

      Homozygous or compound heterozygous mutations in the GDAP1 gene cause Charcot-Marie-Tooth (CMT4A) that are consistent with an autosomal recessive mode of inheritance. The case reported in this study is clinically and genetically diagnosed with recessive CMT4A that is caused by a compound novel heterozygous GDAP1 mutation. The genomic DNA of the proband with the clinical diagnosis of CMT was screened for GDAP1 mutations using a targeted next-generation sequencing (NGS) gene-panel that comprised of 27CMT genes. Two novel compound heterozygous amino acid changing variants were identified in the GDAP1 gene, c.246C>G p.His82Gln in exon 2 and c.614T>G p.Leu205Trp in exon 5. The two amino acid changing variants were not previously reported in the 1000 Genome, Mutation Taster and gnomAD. Our findings expand the phenotypic characterization of the two novel heterozygous mutations associated with CMT4A (AR-CMT1A) and add to the repertoire of GDAP1 mutations related to autosomal recessive CMT in Chinese populations.

    • Author Affiliations

       

      HUIQIN XUE1 NEVEN MAKSEMOUS2 DAVID SIDHOM3 LAN MA1 SHAOHUI CHEN1 JIANRUI WU1 YU FENG4 LARISA M. HAUPT2 LYN R. GRIFFITHS2

      1. Children's Hospital of Shanxi, Women Health Center of Shanxi, Affiliated Hospital of Shanxi Medical University, Taiyuan 030013, Shanxi, People’s Republic of China
      2. Genomics Research Centre, Institute of Health and Biomedical Innovation (IHBI), School of Biomedical Sciences, Queensland University of Technology (QUT), Q Block, 60 Musk Ave, Kelvin Grove Campus, Brisbane, QLD 4059, Australia
      3. The Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia
      4. Shanxi Medical University, Taiyuan 030002, Shanxi, People's Republic of China
    • Dates

       
  • Journal of Genetics | News

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