Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

ABSTRACT:

Objectives

To identify suspected RDS mutations in families in which different people have been identified with either generalised retinal dystrophy or macular dystrophy.

Methods

Two families with a retinal dystrophy were extensively phenotyped and blood was taken for mutation analysis of the RDS (all) and ROM1 (retinitis pigmentosa patients only) genes.

Results

A novel p.Trp94X mutation in RDS was found in all three affected members of a two-generation family that was associated with retinitis pigmentosa in the son, pattern dystrophy in the daughter and fundus flavimaculatus in the mother. In the second family, the proband with retinitis pigmentosa carried a p.Arg220Trp mutation. The mother, who was unavailable for mutation screening, had adult vitelliform macular dys

SUBMITTER: Leroy BP 

PROVIDER: S-EPMC1857593 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature