Developmental regression and cerebellar atrophy in a patient with congenital fiber-type disproportion and a <i>de novo</i> heterozygous <i>CTBP1</i> variant

DOI
  • Ozaki Ayami
    Department of Pediatric Neurology, National Center of Neurology and Psychiatry Hospital, Kodaira, Tokyo
  • Komaki Hirofumi
    Department of Pediatric Neurology, National Center of Neurology and Psychiatry Hospital, Kodaira, Tokyo Translational Medical Center and Department of Neuromuscular Research, National Institute of Neuroscience
  • Nishino Ichizo
    National Center of Neurology and Psychiatry, Kodaira, Tokyo
  • Nonaka Ikuya
    Department of Pediatric Neurology, National Center of Neurology and Psychiatry Hospital, Kodaira, Tokyo National Center of Neurology and Psychiatry, Kodaira, Tokyo
  • Ikuta Yoji
    Department of Pediatrics, Showa General Hospital, Kodaira, Tokyo
  • Sakamoto Masamune
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa
  • Iwama Kazuhiro
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa
  • Mizuguchi Takeshi
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa
  • Matsumoto Naomichi
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa
  • Sasaki Masayuki
    Department of Pediatric Neurology, National Center of Neurology and Psychiatry Hospital, Kodaira, Tokyo

Bibliographic Information

Other Title
  • 先天性筋線維タイプ不均等症の筋病理像を示し, 重度精神運動発達退行と進行性小脳萎縮を呈した<i>CTBP1</i>異常症

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Description

<p>  We identified a variant in the carboxyl terminal binding protein 1 gene, NM_001328.3 (CTBP1) : c.1024C＞T [p.R342W] , in a 14-year-old boy who had psychomotor regression and progressive cerebellar atrophy. The CTBP1 is a causative gene of hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS ; #617915). This patient showed two characteristics compared with the findings in previously reported cases : 1) initial diagnosis of congenital fiber-type disproportion (CFTD) was made by muscle biopsy at his age of 4 years, and 2) there was no tooth enamel defect, which is one of the main symptoms of HADDTS. Because HADDTS is associated with various central nervous system diseases, CTBP1 should be considered as a possible candidate gene for patients showing a clinically progressive course of psychomotor regression and progressive cerebellar atrophy.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 52 (5), 327-331, 2020

    The Japanese Society of Child Neurology

Keywords

Details 詳細情報について

  • CRID
    1390004222631957248
  • NII Article ID
    130007923291
  • DOI
    10.11251/ojjscn.52.327
  • ISSN
    18847668
    00290831
  • Text Lang
    ja
  • Data Source
    • JaLC
    • CiNii Articles
  • Abstract License Flag
    Disallowed

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