Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.

ABSTRACT:

Importance

As genetic and genomic screening is becoming more widely accessed, correctly distinguishing pathogenic from nonpathogenic variants is of increasing relevance.

Objective

To reevaluate a previously reported family in whom the p.(Pro50Leu) variant in the gene GUCA1A was associated with a dominant retinal dystrophy, in light of new examination findings in the proband's daughter.

Design, setting, and participants

A genetic study relating to a family with an inherited retinal dystrophy was performed at the retinal genetics service of Moorfields Eye Hospital from October 27, 2009, to May 23, 2019, after the proband's daughter underwent fundus examination.

Main outcomes and measures

Results of sequencing of X chromosome-linked retinitis pigmentosa genes in t

SUBMITTER: Mahroo OA 

PROVIDER: S-EPMC6902164 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature