Frequency of p.Q829X Mutation in Otoferlin Gene in Colombian Population with non Syndromic Deafness
Introduction: Hearing loss is 50-60 % heritable. Among this, non-syndromic hearing loss is predominant and more than 40 genes have been reported. One of the most frequently involved is OTO F gene.Objective: To identify the frequency of mutation p.Q829X in OTO F gene, in 649 Colombian individuals wit...
| Autor Principal: | Morales Ortíz, Lisbeth; Pontificia Universidad Javeriana |
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| Otros Autores: | Gelvez Moyano, Nancy; Pontificia Universidad Javeriana, Urrego, Luisa Fernanda; Pontificia Universidad Javeriana, Leiva, María Fernanda; Universidad de Santander, Tamayo Fernández, Marta L.; Fundación Oftalmológica Nacional (FON) |
| Formato: | info:eu-repo/semantics/article |
| Idioma: | spa |
| Publicado: |
Pontificia Universidad Javeriana
2012
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| Acceso en línea: |
http://revistas.javeriana.edu.co/index.php/vnimedica/article/view/16130 |
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| Sumario: |
Introduction: Hearing loss is 50-60 % heritable. Among this, non-syndromic hearing loss is predominant and more than 40 genes have been reported. One of the most frequently involved is OTO F gene.Objective: To identify the frequency of mutation p.Q829X in OTO F gene, in 649 Colombian individuals with non-syndromic deafness.Materials and Methods: A total of 649 individuals were selected and screened for p.Q829X mutation using PCR-RFLP analysis. Results: p.Q829X mutation was identified in 12 deaf individuals (12/649) corresponding to a frequency of 1,8%.Conclusions: p.Q829X mutation is the most common in OTO F gene, and the third cause after S199F and 35delG mutations in GJB2 gene, of deafness in the analyzed population. Variability is observed in the degree of hearing loss in individuals homozygous for the mutation and auditory neuropathy is present in 62,5% of these cases. |
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