Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

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

Abstract

Genetic hearing impairment affects around 1 in every 2,000 births1. 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 deafness2. 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 1b6. 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 syndrome7. 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.

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Fraser, G.R., Causes of Profound Deafness in Childhood. (Johns Hopkins University Press, Baltimore, 1976).

    Google Scholar 

  2. Kelsell, D.P. et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387, 80–82.

    Article  CAS  Google Scholar 

  3. Steel, K.P. & Brown, S.D.M. Genetics of deafness. Curr. Opin. in Neurobiol. 6, 520–525 (1996).

    Article  CAS  Google Scholar 

  4. Guilford, P. et al. A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh1 gene. Hum. Mol. Genet. 3, 989–993 (1994).

    Article  CAS  Google Scholar 

  5. Gibson, F. et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374, 62–64 (1995).

    Article  CAS  Google Scholar 

  6. Weil, D. et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374, 60–61 (1995).

    Article  CAS  Google Scholar 

  7. EI-Amraoui, A. et al. Human Usher Ib/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum. Mol. Genet. 5, 1171–1178 (1996).

    Article  Google Scholar 

  8. Liu, X.Z., Xu, L.R., Zhang, S.L. & Xu, Y. Epidemiological and genetic studies of congenital profound deafness. Am. J. Med. Genet. 53, 192–195 (1994).

    Article  CAS  Google Scholar 

  9. Anderson, H. & Wedenberg, E. Audiometric identification of normal hearingcarriers of genes for deafness. Act a. Otolaryngol. 65, 535–534 (1968).

    Article  CAS  Google Scholar 

  10. Meredith, R. et al. Audiometric detection of carriers of Usher's syndrome type II. J. Audiol. Med. 1, 11–19 (1992).

    Google Scholar 

  11. Stephens, D. & Francis, M. The detection of carriers of genetic hearing loss. in: Genetics and Hearing Impairment (eds. Martini, A., Read, A. & Stephens, D. 100–108 (Whurr, London 1996).

    Google Scholar 

  12. Weston, M.D. et al. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am. J. Hum. Genet. 59, 1074–1083 (1996).

    CAS  PubMed  PubMed Central  Google Scholar 

  13. Cope, M.J.T.V., Whisstock, J., Rayment, I. & Kendrick-Jones, J. Conservation within the myosin motor domain: implications for structure and function. Structure 4, 969–987 (1996).

    Article  CAS  Google Scholar 

  14. Solc, C.K., Derfler, B.H., Duyk, G. & Corey, D.P. Molecular cloning of myosins from the bullfrog saccular macula: A candidate for the adaptation motor. Auditory Neurosci. 1, 63–75 (1994).

    CAS  Google Scholar 

  15. Rayment, I. et al. Three-dimensional structure of a myosin subfragment-1: A molecular motor. Science 261, 50–58 (1993).

    Article  CAS  Google Scholar 

  16. Liu, X.Z., Newton, V.E., Steel, K.P. & Brown, S.D.M. Identification of a new mutation of the head region of myosin VII gene in Usher syndrome type 1. Hum. Mutat. (in press).

  17. Levy, G. et al. Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB. Hum. Mol. Genet. 6, 111–116 (1997).

    Article  CAS  Google Scholar 

  18. Chen, Z.Y. et al. Molecular cloning and domain structure of human myosin Vila, the gene product defective in Usher syndrome 1 B. Genomics 36, 440–448 (1996).

    Article  CAS  Google Scholar 

  19. Liu, X.Z. & Xu, L.R. Non-syndromic genetic deafness: An analysis of audiograms. Ann. Otol. Rhinol. Laryngol. 103, 428–433 (1994).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Liu, XZ., Walsh, J., Mburu, P. et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16, 188–190 (1997). https://doi.org/10.1038/ng0697-188

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0697-188

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing