Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

ABSTRACT:

Background

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior.

Methods

This was an observational case series, wherein participants with SLOS underw

SUBMITTER: Thurm A 

PROVIDER: S-EPMC4822234 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature