Molecular characterization of retinitis pigmentosa in Saudi Arabia

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Aldahmesh, Mohammed A., Abu Safieh, Leen, Alkuraya, Hisham, Al-Rajhi, Ali, Shamseldin, Hanan, Hashem, Mais, Alzahrani, Fatemah, Khan, Arif O., Alqahtani, Faisal, Rahbeeni, Zuhair, Alowain, Mohammed, Khalak, Hanif, Al-Hazzaa, Salwa, Meyer, Brian F., Alkuraya, Fowzan S.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786884/
https://www.ncbi.nlm.nih.gov/pubmed/19956407
_version_ 1782174879418679296
author Aldahmesh, Mohammed A.
Abu Safieh, Leen
Alkuraya, Hisham
Al-Rajhi, Ali
Shamseldin, Hanan
Hashem, Mais
Alzahrani, Fatemah
Khan, Arif O.
Alqahtani, Faisal
Rahbeeni, Zuhair
Alowain, Mohammed
Khalak, Hanif
Al-Hazzaa, Salwa
Meyer, Brian F.
Alkuraya, Fowzan S.
author_facet Aldahmesh, Mohammed A.
Abu Safieh, Leen
Alkuraya, Hisham
Al-Rajhi, Ali
Shamseldin, Hanan
Hashem, Mais
Alzahrani, Fatemah
Khan, Arif O.
Alqahtani, Faisal
Rahbeeni, Zuhair
Alowain, Mohammed
Khalak, Hanif
Al-Hazzaa, Salwa
Meyer, Brian F.
Alkuraya, Fowzan S.
author_sort Aldahmesh, Mohammed A.
collection PubMed
description 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.
format Text
id pubmed-2786884
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher Molecular Vision
record_format MEDLINE/PubMed
spelling pubmed-27868842009-12-02 Molecular characterization of retinitis pigmentosa in Saudi Arabia Aldahmesh, Mohammed A. Abu Safieh, Leen Alkuraya, Hisham Al-Rajhi, Ali Shamseldin, Hanan Hashem, Mais Alzahrani, Fatemah Khan, Arif O. Alqahtani, Faisal Rahbeeni, Zuhair Alowain, Mohammed Khalak, Hanif Al-Hazzaa, Salwa Meyer, Brian F. Alkuraya, Fowzan S. Mol Vis Research Article 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. Molecular Vision 2009-11-24 /pmc/articles/PMC2786884/ /pubmed/19956407 Text en Copyright © 2008 Molecular Vision. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Aldahmesh, Mohammed A.
Abu Safieh, Leen
Alkuraya, Hisham
Al-Rajhi, Ali
Shamseldin, Hanan
Hashem, Mais
Alzahrani, Fatemah
Khan, Arif O.
Alqahtani, Faisal
Rahbeeni, Zuhair
Alowain, Mohammed
Khalak, Hanif
Al-Hazzaa, Salwa
Meyer, Brian F.
Alkuraya, Fowzan S.
Molecular characterization of retinitis pigmentosa in Saudi Arabia
title Molecular characterization of retinitis pigmentosa in Saudi Arabia
title_full Molecular characterization of retinitis pigmentosa in Saudi Arabia
title_fullStr Molecular characterization of retinitis pigmentosa in Saudi Arabia
title_full_unstemmed Molecular characterization of retinitis pigmentosa in Saudi Arabia
title_short Molecular characterization of retinitis pigmentosa in Saudi Arabia
title_sort molecular characterization of retinitis pigmentosa in saudi arabia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786884/
https://www.ncbi.nlm.nih.gov/pubmed/19956407
work_keys_str_mv AT aldahmeshmohammeda molecularcharacterizationofretinitispigmentosainsaudiarabia
AT abusafiehleen molecularcharacterizationofretinitispigmentosainsaudiarabia
AT alkurayahisham molecularcharacterizationofretinitispigmentosainsaudiarabia
AT alrajhiali molecularcharacterizationofretinitispigmentosainsaudiarabia
AT shamseldinhanan molecularcharacterizationofretinitispigmentosainsaudiarabia
AT hashemmais molecularcharacterizationofretinitispigmentosainsaudiarabia
AT alzahranifatemah molecularcharacterizationofretinitispigmentosainsaudiarabia
AT khanarifo molecularcharacterizationofretinitispigmentosainsaudiarabia
AT alqahtanifaisal molecularcharacterizationofretinitispigmentosainsaudiarabia
AT rahbeenizuhair molecularcharacterizationofretinitispigmentosainsaudiarabia
AT alowainmohammed molecularcharacterizationofretinitispigmentosainsaudiarabia
AT khalakhanif molecularcharacterizationofretinitispigmentosainsaudiarabia
AT alhazzaasalwa molecularcharacterizationofretinitispigmentosainsaudiarabia
AT meyerbrianf molecularcharacterizationofretinitispigmentosainsaudiarabia
AT alkurayafowzans molecularcharacterizationofretinitispigmentosainsaudiarabia

Ejemplares similares