Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

ABSTRACT:

Objective

To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences.

Methods

A total of 262 399 individuals with no known indication or increased probability of SLOS carrier status, primarily US based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups. SLOS birth incidences obtained from existing literature were then compared with these data to estimate the effect of SLOS on fetal survival.

Results

Smith-Lemli-Opitz syndrome carrier frequency is highest in Ashkenazi Jews (1 in 43) and Northern Europeans (1 in 54). Comparing predicted birth i

SUBMITTER: Lazarin GA 

PROVIDER: S-EPMC5413855 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature