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Article

Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

European journal of human genetics : EJHG - 1 Mar 2013

Lanthaler Barbara, Steichen-Gersdorf Elisabeth, Kollerits Barbara, Zschocke Johannes, Witsch-Baumgartner Martina

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS [MIM 270400]) is an autosomal recessive malformation syndrome that shows a great variability with regard to severity. SLOS is caused by mutations in the Δ7sterol-reductase gene (DHCR7), which disrupt cholesterol biosynthesis. Phenotypic variability of the disease is already known to be associated with maternal apolipoprotein E (ApoE) genotype. The aim of this study was to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22929031
DOI: 10.1038/ejhg.2012.169
PMCID: PMC3573202

Genes

ABCA1
DHCR7

Variants

Provenance

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