Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene

Marybeth Hummel, David Cunningham, Charles J. Mullett, Richard I. Kelley, Gail E. Herman

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)246-251
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume122 A
Issue number3
StatePublished - Oct 15 2003

Keywords

  • Bpa mouse
  • CHILD syndrome
  • Cholesterol biosynthesis
  • Hemidysplasia
  • Ichthyosiform nevus
  • NSDHL
  • X-linked dominant

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Hummel, M., Cunningham, D., Mullett, C. J., Kelley, R. I., & Herman, G. E. (2003). Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. American Journal of Medical Genetics, 122 A(3), 246-251.