Mental Retardation in a Boy with Congenital Adrenal Hypoplasia: A Clue to Contiguous Gene Syndrome Involving DAX1 and IL1RAPL

DOI Web Site PubMed 被引用文献2件 参考文献13件
  • SASAKI RIE
    Department of Pediatrics, Keio University School of Medicine
  • INAMO YASUJI
    Department of General Pediatrics, Nihon University Nerima-Hikarigaoka Hospital
  • SAITOH KAZUMASA
    Mitsubishi Kagaku Bioclinical Laboratories
  • HASEGAWA TOMONOBU
    Department of Pediatrics, Keio University School of Medicine
  • KINOSHITA EIICHI
    Department of Pediatrics, Nagasaki University School of Medicine
  • OGATA TSUTOMU
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development

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We report on a 2 years and 9 months old Japanese boy with adrenal hypoplasia and mental retardation (MR) (developmental quotient ∼60) which occurred in the absence of severe adrenal crisis and resultant brain damage. Cytogenetic and molecular studies were performed in this boy and his parents with normal phenotype, showing that the boy had a maternally derived ∼2 Mb interstitial Xp deletion involving DAX1 (DSS-AHC critical region on the X chromosome, gene 1) for adrenal hypoplasia congenita and disrupting IL1RAPL (interleukin-1 receptor accessory protein-like) for non-specific MR. The results explain the development of MR in this boy in terms of contiguous gene syndrome, and suggest the importance of IL1RAPL analysis in patients with adrenal hypoplasia and MR.

収録刊行物

  • Endocrine Journal

    Endocrine Journal 50 (3), 303-307, 2003

    一般社団法人 日本内分泌学会

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