• PMID: 12940459
• Gene Name: IL1RAPL
• Condition: adrenal hypoplasia
• Association: 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.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Adrenal hypoplasia

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

Sasaki R, Inamo Y, Saitoh K, Hasegawa T, Kinoshita E, Ogata T.

We report on a 2 years and 9 months old Japanese boy with adrenal hypoplasia and mental retardation (MR) (developmental quotient approximately 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 approximately 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. FAU - Sasaki, Rie AU - Sasaki R AD - Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan. FAU - Inamo, Yasuji AU - Inamo Y FAU - Saitoh, Kazumasa AU - Saitoh K FAU - Hasegawa, Tomonobu AU - Hasegawa T FAU - Kinoshita, Eiichi AU - Kinoshita E