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Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

✍ Scribed by John S. Waye; Patrycja A. Krakowiak; Christopher A. Wassif; Allison L. Sterner; Barry Eng; Lisa M. Nakamura; Małgorzata J.M. Nowaczyk; Forbes D. Porter

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
159 KB
Volume
26
Category
Article
ISSN
1059-7794

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✦ Synopsis

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations. Here, we report the identification of nine novel missense mutations of the DHCR7 gene.

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