Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

X. Z. Liu, J. Walsh, P. Mburu, J. Kendrick-Jones, M. J.T.V. Cope, K. P. Steel, S. D.M. Brown

Research output: Contribution to journalArticle

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Abstract

Genetic hearing impairment affects around 1 in every 2,000 births. The bulk (approximately 70%) of genetic deafness is non-syndromic, in which hearing impairment is not associated with any other abnormalities. Over 25 loci involved in non-syndromic deafness have been mapped and mutations in connexin 26 have been identified as a cause of non-sydromic deafness. One locus for non-syndromic recessive deafness, DFNB2 (ref. 4), has been localized to the same chromosomal region, 11q14, as one of the loci, USH1B, underlying the recessive deaf-blind syndrome, Usher syndrome type 1b, which is characterized by profound congenital sensorineural deafness, constant vestibular dysfunction and prepubertal onset of retinitis pigmentosa. Recently, it has been shown that a gene encoding an unconventional myosin, myosin VIIA, underlies the mouse recessive deafness mutation, shaker-1 (ref. 5) as well as Usher syndrome type 1b. Mice with shaker-1 demonstrate typical neuroepithelial defects manifested by hearing loss and vestibular dysfunction but no retinal pathology. Differences in retinal patterns of expression may account for the variance in phenotype between shaker-1 mice and Usher type 1 syndrome. Nevertheless, the expression of MYO7A in the neuroepithelium suggests that it should be considered a candidate for non-syndromic deafness in the human population. By screening families with non-syndromic deafness from China, we have identified two families carrying MYO7A mutations.

Original languageEnglish (US)
Pages (from-to)188-190
Number of pages3
JournalNature genetics
Volume16
Issue number2
DOIs
StatePublished - Jun 19 1997
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Liu, X. Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P., & Brown, S. D. M. (1997). Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature genetics, 16(2), 188-190. https://doi.org/10.1038/ng0697-188