Mental retardation in a boy with congenital adrenal hypoplasia: A clue to contiguous gene syndrome involving DAX1 and IL1RAPL

Rie Sasaki, Yasuji Inamo, Kazumasa Saitoh, Tomonobu Hasegawa, Eiichi Kinoshita, Tsutomu Ogata

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)303-307
Number of pages5
JournalEndocrine journal
Volume50
Issue number3
DOIs
Publication statusPublished - 2003 Jun 1

Keywords

  • Adrenal hypoplasia
  • Contiguous gene syndrome
  • DAX1
  • IL1RAPL
  • Mental retardation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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