Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.
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.
Hummel
Marybeth
M
Department of Pediatrics, West Virginia University School of Medicine, Morgantown, WV, USA.
Cunningham
David
D
Mullett
Charles J
CJ
Kelley
Richard I
RI
Herman
Gail E
GE
D015096:3-Hydroxysteroid Dehydrogenases; D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001132:Arm / Q000002:abnormalities*; D001483:Base Sequence; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D007057:Ichthyosis / Q000473:pathology; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000473:pathology*; D009506:Nevus / Q000473:pathology*; D013577:Syndrome
D018389:Codon, Nonsense; D004247:DNA; D015096:3-Hydroxysteroid Dehydrogenases; D006913:Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human