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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.

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

References

  1. DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Friedman, T.B., Hinnant, J.T., Ghosh, M., Boger, E.T., Riazuddin, S., Lupski, J.R., Potocki, L., Wilcox, E.R. Adv. Otorhinolaryngol. (2002) [Pubmed]
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