title: Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.
abstract: 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.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Sasaki
authors.forename: Yasuji
authors.initials: Y
authors.lastname: Inamo
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Saitoh
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Eiichi
authors.initials: E
authors.lastname: Kinoshita
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D057137:DAX-1 Orphan Nuclear Receptor; D004247:DNA / Q000032:analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D053577:Interleukin-1 Receptor Accessory Protein; D008297:Male; D016133:Polymerase Chain Reaction; D017472:Receptors, Interleukin-1 / Q000235:genetics*; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C407643:IL1RAPL1 protein, human; D053577:Interleukin-1 Receptor Accessory Protein; C539965:NR0B1 protein, human; D017472:Receptors, Interleukin-1; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D004247:DNA