Molecular characterization of retinitis pigmentosa in Saudi Arabia.
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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
Publications
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Aldahmesh Mohammed A MA Safieh Leen Abu LA Alkuraya Hisham H Al-Rajhi Ali A Shamseldin Hanan H Hashem Mais M Alzahrani Fatemah F Khan Arif O AO Alqahtani Faisal F Rahbeeni Zuhair Z Alowain Mohammed M Khalak Hanif H Al-Hazzaa Salwa S Meyer Brian F BF Alkuraya Fowzan S FS
Molecular vision 20091124
<h4>Purpose</h4>To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample.<h4>Methods</h4>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.<h4>Results</h4>Mutations were identified in 94% of our study cohort, including seven that were novel.<h4>Conclusions</h4>Homozygosity mapping is an extremely robust approach i ...[more]
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