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Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome

✍ Scribed by Kevin P. Battaile; Brian C. Battaile; Louise S. Merkens; Cheryl L. Maslen; Robert D. Steiner


Book ID
115639781
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
77 KB
Volume
72
Category
Article
ISSN
1096-7192

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The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis resulting from a deficiency of the enzyme 7-dehydrocholesterol ⌬7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G → C transversion in the splice acce