A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.

ABSTRACT:

Background

Besides the three known genes (RHO, RDS/Peripherin, NRL) involved in autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been recently identified. Initial reports suggest that mutations in the RP1 gene are the second most frequent cause of adRP. The clinical findings were described in a family with adRP and a novel mutation in the RP1 gene.

Method

Index patients from 15 independent families with adRP in which RHO mutations had been excluded in previous examinations were screened for mutations in the RP1 gene by means of direct DNA sequencing. Evaluation of the RP1 phenotype in patients included funduscopy, kinetic perimetry, dark adapted final threshold test, standard electroretinography and, in one case, multifocal electroretinography.

Resu

SUBMITTER: Dietrich K 

PROVIDER: S-EPMC1771063 | biostudies-literature | 2002 Mar

REPOSITORIES: biostudies-literature