CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.
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.
Grange
D K
DK
Department of Pediatrics, Saint Louis University School of Medicine, Missouri, USA. grange@slu.edu
Kratz
L E
LE
Braverman
N E
NE
Kelley
R I
RI
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics; D005260:Female; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000201:enzymology / Q000235:genetics; D007223:Infant; D007866:Leg / Q000002:abnormalities; D017354:Point Mutation; D011859:Radiography; D013261:Sterols / Q000097:blood; D013577:Syndrome
D013261:Sterols