Autor: |
Belguith H; Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia., Aifa-Hmani M, Dhouib H, Said MB, Mosrati MA, Lahmar I, Moalla J, Charfeddine I, Driss N, Arab SB, Ghorbel A, Ayadi H, Masmoudi S |
Jazyk: |
angličtina |
Zdroj: |
Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2009 Feb; Vol. 13 (1), pp. 147-51. |
DOI: |
10.1089/gtmb.2008.0077 |
Abstrakt: |
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: |
MEDLINE |
Externí odkaz: |
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