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.