Mental Retardation in a Boy with Congenital Adrenal Hypoplasia: A Clue to Contiguous Gene Syndrome Involving DAX1 and IL1RAPL
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Accession number;03A0491628
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| Title;Mental Retardation in a Boy with Congenital Adrenal Hypoplasia: A Clue to Contiguous Gene Syndrome Involving DAX1 and IL1RAPL |
| Author;
SASAKI R
(Keio Univ. School Of Medicine, Tokyo, Jpn)
INAMO Y
(Nihon Univ. Nerima-hikarigaoka Hospital, Tokyo, Jpn)
SAITOH K
(Mitsubishi Kagaku Bioclinical Lab., Tokyo, Jpn)
HASEGAWA T
(Keio Univ. School Of Medicine, Tokyo, Jpn)
KINOSHITA E
(Nagasaki Univ. School Of Medicine, Nagasaki, Jpn)
OGATA T
(National Res. Inst. Child Health And Dev., Tokyo, Jpn)
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Journal Title;Endocr J
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Journal Code:F0625A
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ISSN:0918-8959
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VOL.50;NO.3;PAGE.303-307(2003)
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| Figure&Table&Reference;FIG.2, REF.9 |
| Pub. Country;Japan |
| Language;English |
| 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 -2Mb 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. (author abst.) |
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