CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase - PubMed (original) (raw)
Case Reports
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase
D K Grange et al. Am J Med Genet. 2000.
Abstract
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-Hünermann 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 3beta-hydroxysteroid-delta8,delta7-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 3beta-hydroxysteroid-delta8,delta7-isomerase gene. We speculate that at least some cases of CHILD syndrome are allelic with CDPX2 caused by 3beta-hydroxysteroid-delta8,delta7-isomerase deficiency.
Comment in
- Behold the CHILD.
Opitz JM. Opitz JM. Am J Med Genet. 2000 Feb 14;90(4):336-8. doi: 10.1002/(sici)1096-8628(20000214)90:4<336::aid-ajmg14>3.0.co;2-h. Am J Med Genet. 2000. PMID: 10710234 No abstract available.
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