New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

ABSTRACT:

Background

Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable as many of the original studies used low number of controls. To study whether there are possible false-positive variants associated with MFS, four in silico prediction tools (SIFT, Polyphen-2, Grantham score, and conservation across species) were used to predict the pathogenicity of these variant.

Results

Twenty-three out of 891 previously MFS-associated variants were identified in the ESP. These variants were distributed on 100 heterozygote carriers in 6494 screened individuals. Thi

SUBMITTER: Yang RQ 

PROVIDER: S-EPMC4070351 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature