Molecular characterization of retinitis pigmentosa in Saudi Arabia.
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ABSTRACT:
SUBMITTER: Aldahmesh MA
PROVIDER: S-EPMC2786884 | biostudies-literature | 2009
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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