Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.

ABSTRACT:

Purpose

To report on the phenotype and the genotype of Italian patients carrying BEST1 mutations on both alleles.

Methods

Five Italian patients from four independent pedigrees with retinal dystrophy associated with biallelic BEST1 variants were recruited from different parts of Italy. Molecular genetic analysis of the BEST1 gene was performed with direct sequencing techniques. All the subjects included in the study were clinically evaluated with a standard ophthalmologic examination, fundus photography, optical coherence tomography scan, and electrophysiological investigations.

Results

Six BEST1 variants were identified. Three, c.1699del (p.Glu557AsnfsX52), c.625delAAC (p.Asn179del), and c.139C>T (p.Arg47Cys), were novel, and three had already been reported in the lit

SUBMITTER: Sodi A 

PROVIDER: S-EPMC3233384 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature