Characteristic genetic mutation in elder sister and younger brother with the Cockayne syndrome A

DOI
  • Matsuda Yumeko
    School of Medicine, University of Occupational and Environmental Health
  • Shimono Masayuki
    School of Medicine, University of Occupational and Environmental Health
  • Fukuda Tomofumi
    School of Medicine, University of Occupational and Environmental Health
  • Ishii Masahiro
    School of Medicine, University of Occupational and Environmental Health
  • Senju Ayako
    School of Medicine, University of Occupational and Environmental Health
  • Igarashi Ryota
    School of Medicine, University of Occupational and Environmental Health
  • Shiota Naoki
    UBE Industries, LTD. Department of Health Care and Support Center
  • Kusuhara Koichi
    School of Medicine, University of Occupational and Environmental Health

Bibliographic Information

Other Title
  • 特徴的遺伝子変異を認めたCockayne症候群Aの姉弟例

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Abstract

<p>  The Cockayne syndrome (CS) is a very rare disease with symptoms including short stature, mental retardation, microcephaly, pigmentary degeneration of the retina, premature senility, renal dysfunction, and photosensitivity. These symptoms tend to appear slowly, and the disease often cannot be diagnosed at the early stages. Here, we describe the cases of elder sister and younger brother with the Cockayne syndrome A (CSA) presenting the same homozygous mutation with the inversion and deletion of ERCC8. Only one genetic analysis of CSA has been reported previously in Japan, showing that three out of five patients present this type of mutation. Thus, we concluded that this mutation must be a founder effect of CSA in Japan.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 49 (6), 423-426, 2017

    The Japanese Society of Child Neurology

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