DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7). We report on three cousins with SLOS, all of whom were found to be compound heterozygotes for the common splice site mutation IVS8-1G-->C and the missense mutation T289I. DNA analysis of one set of parents demonstrated that the father carried the missense mutation and the mother carried the IVS8-1G-->C mutation. By extension, the two unrelated mothers were both heterozygous for IVS8-1G-->C. This finding supports the notion of a high carrier frequency of the IVS8-1G-->C null mutation in Northern European Caucasians.
Nowaczyk
M J
MJ
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. nowaczyk@hhsc.ca
Heshka
T
T
Eng
B
B
Feigenbaum
A J
AJ
Waye
J S
JS
D004252:DNA Mutational Analysis; D003684:Dehydrocholesterols / Q000378:metabolism; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*
D003684:Dehydrocholesterols; D022821:RNA Splice Sites; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase