Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

ABSTRACT:

Background

Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrauterine death. Smith-Lemli-Opitz syndrome is caused by mutations in the Delta7 sterol-reductase gene (DHCR7; EC 1.3.1.21), which impair endogenous cholesterol biosynthesis and make the growing embryo dependent on exogenous (maternal) sources of cholesterol. We have investigated whether apolipoprotein E, a major component of the cholesterol transport system in human beings, is a modifier of the clinical severity of Smith-Lemli-Opitz syndrome.

Method

Common apo E, DHCR7, and LDLR genotypes were determined in 137 biochemically charact

SUBMITTER: Witsch-Baumgartner M 

PROVIDER: S-EPMC1735869 | biostudies-literature | 2004 Aug

REPOSITORIES: biostudies-literature