Genetic Testing and Molecular Biomarkers · 2009 · 40 citations · 22 references
GeneticsPathologyMolecular GeneticsDisease Gene IdentificationGenomicsMendelian DisorderSplice Site MutationDistinctive GenesRecessive DeafnessMolecular DiagnosticsVariant InterpretationThree Novel MutationsAudiologyHearing DisordersAuditory ResearchHearing LossDevelopmental BiologyGenetic DisorderArtsMedicineAuditory SystemHuman Myo15a
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.
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Easy calculations of lod scores and genetic risks on small computers.
G.M. Lathrop, J.-M. Lalouel · PubMed · 1984 · 1.5K citations
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
David P. Kelsell, John Dunlop, Howard P. Stevens et al. · Nature · 1997 · 1.5K citations
Mendelian Disorder, Developmental Biology, Genetic Disorder +2