Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients
Background: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations that is estimated to affect more than 1.5 million people worldwide. RP is characterized by retinal pigment deposits visible on fundus examination, abnormal electroretinogram a...
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doaj-94955246525247dea9c35f7aadbbee372020-11-25T02:32:51ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302015-10-0116435535910.1016/j.ejmhg.2015.03.003Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patientsReem Mebed0Yasser B.M. Ali1Nahed Solouma2Amr Eldib3Mahmoud Amer4Ahmed Osman5National Organization for Research and Control of Biologics, Cairo 12611, EgyptGenetic Engineering and Biotechnology Research Institute, University of Sadat City, EgyptKing AbdulAziz University, Jeddah, Saudi ArabiaNational Institute of Laser Enhanced Sciences, Cairo University, 12613, EgyptFaculty of Science, Cairo University, 12613, EgyptFaculty of Science, Cairo University, 12613, EgyptBackground: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations that is estimated to affect more than 1.5 million people worldwide. RP is characterized by retinal pigment deposits visible on fundus examination, abnormal electroretinogram and progressive retinal dysfunction. Aim: The present work aimed to identify the possible mutations in the rhodopsin gene (RHO) among Egyptian RP patients as well as identifying the different inheritance patterns of those patients. Subjects and methods: Thirty diagnosed retinitis pigmentosa patients were enrolled in the study. Inheritance forms of RP were identified by recording full family history, the coding regions of the rhodopsin gene were sequenced using blood-derived genomic DNA samples donated by patients and fifteen healthy controls. Results: A high percentage of autosomal recessive cases was reported. Also a high parental consanguinity rates were evident. Sequencing of rhodopsin gene revealed no mutations among the study population. Conclusion: Rhodopsin mutations are scarcely associated with the autosomal recessive RP, suggesting that wide scale studies are needed to determine the genetic variations involved in RP and particularly in the autosomal recessive inheritance.http://www.sciencedirect.com/science/article/pii/S1110863015000178Retinitis pigmentosaRhodopsin mutationsAutosomal recessive retinitis pigmentosaAutosomal dominant retinitis pigmentosaGenetic counselingElectroretinogram |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Reem Mebed Yasser B.M. Ali Nahed Solouma Amr Eldib Mahmoud Amer Ahmed Osman |
spellingShingle |
Reem Mebed Yasser B.M. Ali Nahed Solouma Amr Eldib Mahmoud Amer Ahmed Osman Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients Egyptian Journal of Medical Human Genetics Retinitis pigmentosa Rhodopsin mutations Autosomal recessive retinitis pigmentosa Autosomal dominant retinitis pigmentosa Genetic counseling Electroretinogram |
author_facet |
Reem Mebed Yasser B.M. Ali Nahed Solouma Amr Eldib Mahmoud Amer Ahmed Osman |
author_sort |
Reem Mebed |
title |
Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients |
title_short |
Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients |
title_full |
Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients |
title_fullStr |
Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients |
title_full_unstemmed |
Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients |
title_sort |
rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: a preliminary study of egyptian retinitis pigmentosa patients |
publisher |
SpringerOpen |
series |
Egyptian Journal of Medical Human Genetics |
issn |
1110-8630 |
publishDate |
2015-10-01 |
description |
Background: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations that is estimated to affect more than 1.5 million people worldwide. RP is characterized by retinal pigment deposits visible on fundus examination, abnormal electroretinogram and progressive retinal dysfunction.
Aim: The present work aimed to identify the possible mutations in the rhodopsin gene (RHO) among Egyptian RP patients as well as identifying the different inheritance patterns of those patients.
Subjects and methods: Thirty diagnosed retinitis pigmentosa patients were enrolled in the study. Inheritance forms of RP were identified by recording full family history, the coding regions of the rhodopsin gene were sequenced using blood-derived genomic DNA samples donated by patients and fifteen healthy controls.
Results: A high percentage of autosomal recessive cases was reported. Also a high parental consanguinity rates were evident. Sequencing of rhodopsin gene revealed no mutations among the study population.
Conclusion: Rhodopsin mutations are scarcely associated with the autosomal recessive RP, suggesting that wide scale studies are needed to determine the genetic variations involved in RP and particularly in the autosomal recessive inheritance. |
topic |
Retinitis pigmentosa Rhodopsin mutations Autosomal recessive retinitis pigmentosa Autosomal dominant retinitis pigmentosa Genetic counseling Electroretinogram |
url |
http://www.sciencedirect.com/science/article/pii/S1110863015000178 |
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