Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

ABSTRACT:

Background

The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene ABCA4. However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conclusive molecular diagnosis in a significant proportion of cases.

Methods

We performed whole exome sequencing (WES) of nine putative Stargardt Disease probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Follow-up dideoxy sequencing was performed for confirmation and to screen for mutations in an additional set of affected individuals lacking a definitive molecular diagnosis.

Results

Whole exome se

SUBMITTER: Strom SP 

PROVIDER: S-EPMC3459799 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature