Mutation Detection in MYO15A Gene in an Iranian Family with Non-Syndromic Hearing Loss
| Autor: | Mostafa Neissi, Misagh Mohammadi-Asl, Mojdeh Roghani, Adnan Issa Al-Badran, Javad Mohammadi-Asl |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | International Journal of Biomedicine, Vol 14, Iss 1, Pp 165-169 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2158-0510 2158-0529 |
| DOI: | 10.21103/Article14(1)_CR3 |
| Popis: | Hearing loss, recognized as one of the most prevalent sensory disorders, encompasses both syndromic and non-syndromic manifestations, with the identification of 87 genes and over 100 genetic loci in autosomal recessive non-syndromic hearing loss marking significant progress in understanding its genetic basis. In this case report, we showcase a non-syndromic hearing loss scenario involving a 21-year-old man experiencing progressive hearing loss. Through whole-exome sequencing, we unveiled a previously unreported homozygous mutation, c.1178_1179delAC; p.Tyr393Serfs*38, located in exon 2 (NM_016239.4) of the MYO15A gene in the proband. The newly identified mutation, causing a new reading frame (p.Tyr393Serfs*38), results in an early encounter with a stop codon, leading to the formation of a shortened protein. These findings advance our understanding of the molecular mechanisms involved in autosomal recessive non-syndromic hearing loss, contributing to broader scientific knowledge and potential breakthroughs in hearing loss research. *Published without substantive editing per OFAC Guidance. |
| Databáze: | Directory of Open Access Journals |
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