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Left‐sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene
Author(s) -
Hummel Marybeth,
Cunningham David,
Mullett Charles J.,
Kelley Richard I.,
Herman Gail E.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20248
Subject(s) - nonsense mutation , nonsense , medicine , nevus , mutation , genetics , gene , biology , missense mutation , cancer research , melanoma
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant malformation syndrome characterized by unilaterally distributed ichthyosiform nevi, often sharply delimited at the midline, and ipsilateral limb defects. At least two‐thirds of cases demonstrate involvement of the right side. Mutations in an essential enzyme of cholesterol biosynthesis, NAD(P)H steroid dehydrogenase‐like [NSDHL], have been reported in five unrelated patients with right‐sided CHILD syndrome and in a sixth patient with bilaterally, symmetric nevi and mild skeletal anomalies, but not with CHILD syndrome as originally defined. Although all of the molecularly diagnosed cases with the CHILD phenotype to date have had right‐sided disease, we report here a novel nonsense mutation ( E151X ) of NSDHL in an infant with left‐sided CHILD syndrome. This result demonstrates that both right‐ and left‐sided CHILD syndrome can be caused by mutations in the same gene. © 2003 Wiley‐Liss, Inc.