DFNB3, Spectrum of MYO15A Recessive Mutant Alleles and an Emerging Genotype-Phenotype Correlation

摘要: Abstract We have now identified seven MYO15A mutations that cause congenital profound neurosensory hearing loss and a possible hypomorphic allele of associated with moderately-severe in 1 8 SMS patients. Because myosin XVA is encoded by 66 exons, screening for hearing-impaired individuals expensive labor-intensive comparison to screen GJB2 (Cx26), example, which has only single protein coding exon. Among consanguineous families segregating profound, from Pakistan, approximately 10% are consistent linkage DFNB3 (11 112 DFNB families). In one-half these families, we found homozygous mutation the exons [25]. This suggests responsible at least 5% recessively inherited, Pakistan. However, without benefit pre-screen DFNB3, it will be challenge determine extent contribute hereditary among isolated cases small other populations.