title: Repository of mutations from Oman: The entry point to a national mutation database.
abstract: 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.
authors.affiliation: National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.affiliation: National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Nishath
authors.initials: N
authors.lastname: Hamza
authors.affiliation: National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Salma
authors.initials: S
authors.lastname: Al Harasi
authors.affiliation: National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Fatma
authors.initials: F
authors.lastname: Al Lawati
authors.affiliation: National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Una
authors.initials: U
authors.lastname: Gibbons
authors.affiliation: National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Intesar
authors.initials: I
authors.lastname: Al Alawi
authors.affiliation: National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Karoline
authors.initials: K
authors.lastname: Kobus
authors.affiliation: National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Suha
authors.initials: S
authors.lastname: Hassan
authors.affiliation: Royal Hospital, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Ghariba
authors.initials: G
authors.lastname: Mahir
authors.affiliation: Royal Hospital, Ministry of Health, Muscat, PC 111, Oman.
authors.forename: Qasim
authors.initials: Q
authors.lastname: Al Salmi
authors.affiliation: Bio-Semantics at the Department of Medical Informatics, Erasmus Medical Centre, University of Rotterdam, Rotterdam, 3015 CE, Netherlands.
authors.forename: Barend
authors.initials: B
authors.lastname: Mons
authors.affiliation: Institute of Medical Genetics and Human Genetics, Berlin, 13353, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Robinson
keywords: Birth Defects; Genetic Disease; Sultanate of Oman; disease-associated mutation data