Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss
| Author | Farah Talebi | en |
| Author | Farideh Ghanbari Mardasi | en |
| Author | Javad Mohammadi Asl | en |
| Issued Date | 2016-10-31 | en |
| Abstract | Background: Hearing loss is one of the most common sensory disorders, which can be syndromic and non-syndromic. So far, 61 genes and more than 100 genetic loci have been identified in ARNSHL. Materials and Methods: In this case report study, in order to verify the ARNSHL in a patient with several clinical symptoms and study the variations of the MYO15A gene for the first time in Southwest Iran, the MYO15A gene was entirely sequenced. Coding exons analysis of MYO15A gene was performed by exon direct sequencing. Results: A novel homozygous missense mutation, c.9698T > G in exon 59 of the MYO15A gene was founded by Molecular genetic testing in the patient. Conclusions: This novel mutation results in substituting a Leusin for an Arginin (p.L3233A). It seems that this change is predicted to affect the function of the myosin XVa protein negatively, maybe by disturbing its interaction with whirlin. | en |
| DOI | https://doi.org/10.17795/zjrms-4256 | en |
| Keyword | Hearing Loss | en |
| Keyword | MYO15A | en |
| Keyword | Novel Mutation | en |
| Keyword | Sequencing | en |
| Publisher | Brieflands | en |
| Title | Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss | en |
| Type | Case Report | en |
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