GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.

ABSTRACT:

Purpose

The aim of this study was to investigate the genetic basis and pathogenic mechanism of variable maculopathies, ranging from mild photoreceptor degeneration to central areolar choroidal dystrophy, in a five-generation family.

Methods

Clinical characterizations, whole-exome sequencing, and genome-wide linkage analysis were carried out on the family. Zebrafish models were used to investigate the pathogenesis of GUCA1A mutations.

Results

A novel mutation, GUCA1A p.R120L, was identified in the family and predicted to alter the tertiary structure of guanylyl cyclase-activating protein 1, a photoreceptor-expressed protein encoded by the GUCA1A gene. The mutation was shown in zebrafish to cause significant disruptions in photoreceptors and retinal pigment epithelium,

SUBMITTER: Chen X 

PROVIDER: S-EPMC5548935 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature