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A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing

CHILD (congenital hemidysplasia with ichthyosiform naevus and limb defects) syndrome (OMIM 308050) is an X-linked dominant male-lethal trait. The characteristic clinical features are an inflammatory epidermal naevus showing a unique lateralization pattern with a strict midline demarcation, and an associated ipsilateral hypoplasia or aplasia of skeletal or visceral structures. The disorder is caused by mutations in the NSDHL [NAD(P)H steroid dehydrogenase-like protein] gene located at Xq28, which encodes a 3b-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway. Several types of mutations have thus far been reported in individuals with CHILD syndrome. We report a novel NSDHL gene mutation (c.666C>T) in a Japanese patient with CHILD syndrome, and demonstrate that aberrant mRNA was detected only in the affected skin.