A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.

ABSTRACT:

Background

Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA onset. Among these, the retinaldehyde-binding protein 1 gene, RLBP1, is the most frequently involved and several founder mutations were reported. We report results of a genetic molecular investigation performed on a large Sicilian family in which appears a young woman with RPA.

Results

The proband is in homozygous condition for a novel RLBP1 single-pair deletion, and her healthy parents, both heterozygous, are not consanguineous. Thenovelc.398delC (p.P133Qfs*258) involves the exon 6 and l

SUBMITTER: Scimone C 

PROVIDER: S-EPMC5540190 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature