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      https://www.ias.ac.in/article/fulltext/jgen/100/0068

    • Keywords

       

      CTBP1 gene; HADDTS; whole-exome sequencing; speech impairment; tooth enamel defects.

    • Abstract

       

      Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is an extremely rare autosomal dominant genetic disease caused by disruptive pathogenic variants in CTBP1. There are merely 12 cases reported to have pathogenic variants in the CTBP1 gene. Here, we report the first case with HADDTS in the Middle-Eastern population. In the present study, wholeexomesequencing was deployed to identify the variant(s) causing this condition. Subsequently, Sanger sequencing was performed to confirm the variant. The clinical evaluation of the patient is written according to the thoroughly carried out examinations and clinical investigations. A novel single frameshift pathogenic variant in CTBP1 (NM_001328.3:c.1315_1316delCA, p.Gln439ValfsTer84) wasidentified as the cause for HADDTS in the proband. Our findings enhance the knowledge of poorly studied CTBP1. The newly reported patient is phenotypically different in comparison to the previously reported cases. He has no sign of hypotonia, difficulty in walking or standing.

    • Author Affiliations

       

      HOSSEIN JAFARI KHAMIRANI1 2 SINA ZOGHI2 ALI SABER SICHANI1 MEHDI DIANATPOUR1 3 SANAZ MOHAMMADI4 SEYED MOHAMMAD BAGHER TABEI1 5 SEYED ALIREZA DASTGHEIB1

      1. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz 71645-10011, Iran
      2. Student Research Committee, Shiraz University of Medical Sciences, Shiraz 71348-43638, Iran
      3. Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz 71347-67617, Iran
      4. Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz 71348-67842, Iran
      5. Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz 71347-67442, Iran
    • Dates

       
  • Journal of Genetics | News

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