| Autor: |
Varga, R., Avenarius, M. R., Kelley, P. M., Keats, B. J., Berlin, C. I., Hood, I. J., Monet, I. G., Brashears, S. M., Starr, A., Cohn, E. S., Smith, R. J. H., Kimberling, W. J. |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics; Jul2006, Vol. 43 Issue 7, p576-581, 5p, 1 Diagram, 2 Charts |
| Abstrakt: |
Introduction: The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene. Methods: In total, 65 recessive non-syndromic hearing loss families were screened by genotyping for association with the DFNB9/OTOF gene. Families with genotypes consistent with linkage or uninformative for linkage to this gene region were further screened for mutations in the 48 known coding exons of otoferlin. Results: Eight OTOF pathological variants were discovered in six families, Of these, Q829X was found in two families. We also noted 23 other coding variant, believed to have no pathology. A previously published missense allele 1515T was found in the heterozygous state in an individual who was observed to be temperature sensitive for the auditory neuropathy phenotype. Conclusions: Mutations in OTOF cause both profound hearing loss and a type of hearing loss where otoacoustic emissions are spared called auditory neuropathy. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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