CHILD syndrome caused by deficiency of 3?-hydroxysteroid-?8, ?7-isomerase

✍ Scribed by Grange, Dorothy K.; Kratz, Lisa E.; Braverman, Nancy E.; Kelley, Richard I.

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 44 KB
• Volume: 90
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f

✦ Synopsis

CHILD (congenital hemidysplasia, ichthyosis, and limb defects) syndrome is a rare, usually sporadic disorder associated with unilateral distribution of ichthyosiform skin lesions, limb defects, punctate calcifications of cartilaginous structures, and visceral anomalies. CHILD syndrome shares some manifestations with X-linked dominant Conradi-Hu ¨nermann syndrome (CDPX2), although the skeletal defects and skin lesions in CDPX2 are bilateral and asymmetric. Because CDPX2 patients have abnormal 8-dehydrosterol metabolism caused by mutations in 3␤-hydroxysteroid-⌬ 8 ,⌬ 7 -isomerase, we measured plasma sterols in a patient with CHILD syndrome and found levels of 8-dehydrocholesterol and 8(9)-cholestenol increased to the same degree as in CDPX2 patients. Subsequently, we identified a nonsense mutation in exon 3 of the patient's 3␤-hydroxysteroid-⌬ 8 ,⌬ 7isomerase gene. We speculate that at least some cases of CHILD syndrome are allelic with CDPX2 caused by 3␤-hydroxysteroid-⌬ 8 ,⌬ 7 -isomerase deficiency.