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

Xue 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
Pages (from-to)188-190
Number of pages3
JournalNature Genetics
Volume16
Issue number2
DOIs
StatePublished - Jun 19 1997
Externally publishedYes

Fingerprint

Deafness
Myosins
Mutation
Genes
Hearing Loss
Deaf-Blind Disorders
Usher Syndromes
Retinitis Pigmentosa
China
Parturition
Pathology
Phenotype
Population

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. / Liu, Xue Z; Walsh, J.; Mburu, P.; Kendrick-Jones, J.; Cope, M. J T V; Steel, K. P.; Brown, S. D M.

In: Nature Genetics, Vol. 16, No. 2, 19.06.1997, p. 188-190.

Research output: Contribution to journalArticle

Liu, XZ, Walsh, J, Mburu, P, Kendrick-Jones, J, Cope, MJTV, Steel, KP & Brown, SDM 1997, 'Mutations in the myosin VIIA gene cause non-syndromic recessive deafness', Nature Genetics, vol. 16, no. 2, pp. 188-190. https://doi.org/10.1038/ng0697-188
Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJTV, Steel KP et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature Genetics. 1997 Jun 19;16(2):188-190. https://doi.org/10.1038/ng0697-188
Liu, Xue Z ; Walsh, J. ; Mburu, P. ; Kendrick-Jones, J. ; Cope, M. J T V ; Steel, K. P. ; Brown, S. D M. / Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. In: Nature Genetics. 1997 ; Vol. 16, No. 2. pp. 188-190.
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