Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus
| Autor: | Hanen Belguith, Ilhem Charfeddine, Hammadi Ayadi, Saber Masmoudi, Abdelmonem Ghorbel, Houria Dhouib, Jihen Moalla, Mounira Aifa-Hmani, Imed Lahmar, Mariem Ben Said, Saida Ben Arab, Nabil Driss, Mohamed Ali Mosrati |
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| Rok vydání: | 2009 |
| Předmět: |
Male
MYO15A Tunisia Hearing Loss Sensorineural DNA Mutational Analysis Genes Recessive Locus (genetics) Consanguinity Myosins Biology Exon Humans Genetic Testing Gene Genetics (clinical) Genetics Splice site mutation Homozygote Intron Exons General Medicine Molecular biology Introns Pedigree Codon Nonsense Mutation Microsatellite Female RNA Splice Sites |
| Zdroj: | Genetic Testing and Molecular Biomarkers. 13:147-151 |
| ISSN: | 1945-0257 1945-0265 |
| Popis: | Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse. Human MYO15A has 66 exons and encodes unconventional myosin XVA. Analysis of 77 Tunisian consanguineous families segregating recessive deafness revealed evidence of linkage to microsatellite markers for DFNB3 in four families. In two families, sequencing of MYO15A led to the identification of two novel homozygous mutations: a nonsense (c.4998C>A (p.C1666X) in exon 17 and a splice site mutation in intron 54 (c.9229 + 1G>A). A novel mutation of unknown significance, c.7395 + 3G>C, was identified in the third family, and no mutation was found in the fourth family. In conclusion, we discovered three novel mutations of MYO15A, and our data suggest the possibility that there are two distinct genes at the DFNB3 locus. |
| Databáze: | OpenAIRE |
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