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Repository of mutations from Oman: The entry point to a national mutation database

The Sultanate of Oman is a rapidly developing Muslim country with well-organized government-funded health care services, and expanding medical genetic facilities. The preservation of tribal structures within the Omani population coupled with geographical isolation has produced unique patterns of rar...

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Autores principales: Rajab, Anna, Hamza, Nishath, Al Harasi, Salma, Al Lawati, Fatma, Gibbons, Una, Al Alawi, Intesar, Kobus, Karoline, Hassan, Suha, Mahir, Ghariba, Al Salmi, Qasim, Mons, Barend, Robinson, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648203/
https://www.ncbi.nlm.nih.gov/pubmed/26594346
http://dx.doi.org/10.12688/f1000research.6938.1
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author Rajab, Anna
Hamza, Nishath
Al Harasi, Salma
Al Lawati, Fatma
Gibbons, Una
Al Alawi, Intesar
Kobus, Karoline
Hassan, Suha
Mahir, Ghariba
Al Salmi, Qasim
Mons, Barend
Robinson, Peter
author_facet Rajab, Anna
Hamza, Nishath
Al Harasi, Salma
Al Lawati, Fatma
Gibbons, Una
Al Alawi, Intesar
Kobus, Karoline
Hassan, Suha
Mahir, Ghariba
Al Salmi, Qasim
Mons, Barend
Robinson, Peter
author_sort Rajab, Anna
collection PubMed
description The Sultanate of Oman is a rapidly developing Muslim country with well-organized government-funded health care services, and expanding medical genetic facilities. The preservation of tribal structures within the Omani population coupled with geographical isolation has produced unique patterns of rare mutations. In order to provide diagnosticians and researchers with access to an up-to-date resource that will assist them in their daily practice we collated and analyzed all of the Mendelian disease-associated mutations identified in the Omani population. By the 1 (st) of August 2015, the dataset contained 300 mutations detected in over 150 different genes. More than half of the data collected reflect novel genetic variations that were first described in the Omani population, and most disorders with known mutations are inherited in an autosomal recessive fashion. A number of novel Mendelian disease genes have been discovered in Omani nationals, and the corresponding mutations are included here. The current study provides a comprehensive resource of the mutations in the Omani population published in scientific literature or reported through service provision that will be useful for genetic care in Oman and will be a starting point for variation databases as next-generation sequencing technologies are introduced into genetic medicine in Oman.
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spelling pubmed-46482032015-11-20 Repository of mutations from Oman: The entry point to a national mutation database Rajab, Anna Hamza, Nishath Al Harasi, Salma Al Lawati, Fatma Gibbons, Una Al Alawi, Intesar Kobus, Karoline Hassan, Suha Mahir, Ghariba Al Salmi, Qasim Mons, Barend Robinson, Peter F1000Res Research Article The Sultanate of Oman is a rapidly developing Muslim country with well-organized government-funded health care services, and expanding medical genetic facilities. The preservation of tribal structures within the Omani population coupled with geographical isolation has produced unique patterns of rare mutations. In order to provide diagnosticians and researchers with access to an up-to-date resource that will assist them in their daily practice we collated and analyzed all of the Mendelian disease-associated mutations identified in the Omani population. By the 1 (st) of August 2015, the dataset contained 300 mutations detected in over 150 different genes. More than half of the data collected reflect novel genetic variations that were first described in the Omani population, and most disorders with known mutations are inherited in an autosomal recessive fashion. A number of novel Mendelian disease genes have been discovered in Omani nationals, and the corresponding mutations are included here. The current study provides a comprehensive resource of the mutations in the Omani population published in scientific literature or reported through service provision that will be useful for genetic care in Oman and will be a starting point for variation databases as next-generation sequencing technologies are introduced into genetic medicine in Oman. F1000Research 2015-09-23 /pmc/articles/PMC4648203/ /pubmed/26594346 http://dx.doi.org/10.12688/f1000research.6938.1 Text en Copyright: © 2015 Rajab A et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Rajab, Anna
Hamza, Nishath
Al Harasi, Salma
Al Lawati, Fatma
Gibbons, Una
Al Alawi, Intesar
Kobus, Karoline
Hassan, Suha
Mahir, Ghariba
Al Salmi, Qasim
Mons, Barend
Robinson, Peter
Repository of mutations from Oman: The entry point to a national mutation database
title Repository of mutations from Oman: The entry point to a national mutation database
title_full Repository of mutations from Oman: The entry point to a national mutation database
title_fullStr Repository of mutations from Oman: The entry point to a national mutation database
title_full_unstemmed Repository of mutations from Oman: The entry point to a national mutation database
title_short Repository of mutations from Oman: The entry point to a national mutation database
title_sort repository of mutations from oman: the entry point to a national mutation database
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648203/
https://www.ncbi.nlm.nih.gov/pubmed/26594346
http://dx.doi.org/10.12688/f1000research.6938.1
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