Molecular characterization of retinitis pigmentosa in Saudi Arabia.

ABSTRACT:

Purpose

To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample.

Methods

Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing.

Results

Mutations were identified in 94% of our study cohort, including seven that were novel.

Conclusions

Homozygosity mapping is an extremely robust approach in the study of retinitis pigmentosa in the setting of high rates of consanguinity. BBS3 mutations can rarely present as nonsyndromic RP.

SUBMITTER: Aldahmesh MA 

PROVIDER: S-EPMC2786884 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature