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A Novel Otoferlin Splice-Site Mutation in Siblings with Auditory Neuropathy Spectrum Disorder
We characterize a novel otoferlin (OTOF) mutation discovered in a sibling pair diagnosed with ANSD and investigate auditory nerve function through their cochlear implants. Genetic sequencing revealed a homozygous mutation at the OTOF splice donor site of exon 28 (IVS28+1 G>T) in both siblings. Fu...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3877672/ https://ncbi.nlm.nih.gov/pubmed/24135434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000354978 |
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