Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
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.
Waye
John S
JS
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Krakowiak
Patrycja A
PA
Wassif
Christopher A
CA
Sterner
Allison L
AL
Eng
Barry
B
Nakamura
Lisa M
LM
Nowaczyk
Małgorzata J M
MJ
Porter
Forbes D
FD
D004252:DNA Mutational Analysis; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology / Q000235:genetics*
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase