DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
Am J Med Genet
; 100(2): 162-3, 2001 Apr 22.
Article
en En
| MEDLINE
| ID: mdl-11298379
ABSTRACT
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.
Buscar en Google
Base de datos:
MEDLINE
Asunto principal:
Oxidorreductasas
/
Síndrome de Smith-Lemli-Opitz
/
Mutación Missense
/
Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH
Idioma:
En
Revista:
Am J Med Genet
Año:
2001
Tipo del documento:
Article