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

研究成果: Article査読

16 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)303-307
ページ数5
ジャーナルEndocrine journal
50
3
DOI
出版ステータスPublished - 2003 6月

ASJC Scopus subject areas

  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学

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