Mol Vis. 2009 Nov 24;15:2464-9.

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS.

Source

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 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.

PMID:: 19956407; [PubMed - indexed for MEDLINE]
PMCID:: PMC2786884

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