Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation
AbstractObjective(s)Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old.Materials and MethodsPatients were test...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Mashhad University of Medical Sciences
2011-05-01
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| Series: | Iranian Journal of Basic Medical Sciences |
| Subjects: | |
| Online Access: | http://www.mums.ac.ir/shares/basic_medical/basicmedjou/2011/may/a3.pdf |
| _version_ | 1811285110597615616 |
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| author | Masoumeh Falah Massoud Houshmand Susan Akbaroghli Saeid Mahmodian Yaser Ghavami Mohammad Farhadi |
| author_facet | Masoumeh Falah Massoud Houshmand Susan Akbaroghli Saeid Mahmodian Yaser Ghavami Mohammad Farhadi |
| author_sort | Masoumeh Falah |
| collection | DOAJ |
| description | AbstractObjective(s)Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old.Materials and MethodsPatients were tested with direct sequencing of entire coding region of the GJB2 gene.ResultsEight known mutations plus one novel (358delGAG) were found in 25% of study group. The 35delG mutation (64%) constituted the majority of GJB2 mutations. ConclusionRole of GJB2 mutation in Iranian young deaf population is more prominent than previous study that can be a result of higher consanguine marriage in population. But our result shows that there is only 25% non-syndromic hearing loss due to high frequency of consanguine marriage in Iranian population. Identification of other genes involved in genetic deafness will help us understand the fundamental mechanisms of normal hearing, both in early diagnosis and therapy. |
| first_indexed | 2024-04-13T02:39:37Z |
| format | Article |
| id | doaj.art-946f42ea073144c891b6abdd19631e87 |
| institution | Directory Open Access Journal |
| issn | 2008-3866 2008-3874 |
| language | English |
| last_indexed | 2024-04-13T02:39:37Z |
| publishDate | 2011-05-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Basic Medical Sciences |
| spelling | doaj.art-946f42ea073144c891b6abdd19631e872022-12-22T03:06:15ZengMashhad University of Medical SciencesIranian Journal of Basic Medical Sciences2008-38662008-38742011-05-011450Profile of Iranian GJB2 Mutations in Young Population with Novel MutationMasoumeh FalahMassoud HoushmandSusan AkbaroghliSaeid MahmodianYaser GhavamiMohammad FarhadiAbstractObjective(s)Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old.Materials and MethodsPatients were tested with direct sequencing of entire coding region of the GJB2 gene.ResultsEight known mutations plus one novel (358delGAG) were found in 25% of study group. The 35delG mutation (64%) constituted the majority of GJB2 mutations. ConclusionRole of GJB2 mutation in Iranian young deaf population is more prominent than previous study that can be a result of higher consanguine marriage in population. But our result shows that there is only 25% non-syndromic hearing loss due to high frequency of consanguine marriage in Iranian population. Identification of other genes involved in genetic deafness will help us understand the fundamental mechanisms of normal hearing, both in early diagnosis and therapy.http://www.mums.ac.ir/shares/basic_medical/basicmedjou/2011/may/a3.pdfARNSHLConnexin Cx26GJB2Hereditary hearing loss |
| spellingShingle | Masoumeh Falah Massoud Houshmand Susan Akbaroghli Saeid Mahmodian Yaser Ghavami Mohammad Farhadi Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation Iranian Journal of Basic Medical Sciences ARNSHL Connexin Cx26 GJB2 Hereditary hearing loss |
| title | Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation |
| title_full | Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation |
| title_fullStr | Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation |
| title_full_unstemmed | Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation |
| title_short | Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation |
| title_sort | profile of iranian gjb2 mutations in young population with novel mutation |
| topic | ARNSHL Connexin Cx26 GJB2 Hereditary hearing loss |
| url | http://www.mums.ac.ir/shares/basic_medical/basicmedjou/2011/may/a3.pdf |
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