Five novel CNGB3 gene mutations in Polish patients with achromatopsia.

ABSTRACT:

Purpose

To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families.

Methods

In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuity testing, color vision testing, and full-field electroretinography (ERG), were performed in all patients (with the exception of patient p4, who had no ERG). Direct DNA sequencing encompassing the entire coding region of the CNGB3 gene, eight exons of the GNAT2 gene, and exons 5-7 of the CNGA3 gene was performed. Segregation analysis for the presence and independent inheritance of two mutant alleles was performed in the three families available for study.

Results

All patients showed typical achromatopsia signs and symptoms

SUBMITTER: Wawrocka A 

PROVIDER: S-EPMC4279706 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature