Molecular characterization of retinitis pigmentosa in Saudi Arabia

Mohammed A. Aldahmesh; Leen Abu Safieh; Hisham Alkuraya; Ali Al-Rajhi; Hanan Shamseldin; Mais Hashem; Fatemah Alzahrani; Arif O. Khan; Faisal Alqahtani; Zuhair Rahbeeni; Mohammed Alowain; Hanif Khalak; Salwa Al-Hazzaa; Brian F. Meyer; Fowzan S. Alkuraya

Molecular characterization of retinitis pigmentosa in Saudi Arabia

Journal article

Peer reviewed

Molecular characterization of retinitis pigmentosa in Saudi Arabia

Mohammed A. Aldahmesh, Leen Abu Safieh, Hisham Alkuraya, Ali Al-Rajhi, Hanan Shamseldin, Mais Hashem, Fatemah Alzahrani, Arif O. Khan, Faisal Alqahtani, Zuhair Rahbeeni, …

Molecular vision, Vol.15(261-62), pp.2464-2469

24/11/2009

PMCID: PMC2786884

PMID: 19956407

Abstract

Biochemistry & Molecular Biology

Life Sciences & Biomedicine

Ophthalmology

Science & Technology

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.

Metrics

1 Record Views

Details

Title: Molecular characterization of retinitis pigmentosa in Saudi Arabia
Creators - without role: Mohammed A. Aldahmesh - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Leen Abu Safieh - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Hisham Alkuraya - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Ali Al-Rajhi - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Hanan Shamseldin - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Mais Hashem - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Fatemah Alzahrani - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Arif O. Khan - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Faisal Alqahtani - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Zuhair Rahbeeni - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Mohammed Alowain - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Hanif Khalak - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Salwa Al-Hazzaa - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Brian F. Meyer - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Fowzan S. Alkuraya - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Publication Details: Molecular vision, Vol.15(261-62), pp.2464-2469
Publisher: Molecular Vision
Number of pages: 6
Grant note: REC 2070023 / King Faisal Specialist Hospital and Research Center Prince Salman Center for Disability Research
Identifiers: 9918764908331
Academic Unit: King Faisal University; King Abdulaziz City for Science & Technology; Prince Sattam Bin Abdulaziz University; Qassim University
Language: English
Resource Type: Journal article