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Gene Review

USH1A  -  Usher syndrome 1A (autosomal recessive,...

Homo sapiens

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Disease relevance of USH1A


High impact information on USH1A

  • Six Usher I genetic subtypes at loci USH1A-USH1F have been reported [2].
  • Four loci responsible for USH1 (USH1A, 1B, 1C and 1D) have previously been mapped, among which only the USH1B gene has been cloned [3].
  • Here, we report the genetic mapping of a gene for US type I (USH1A), the most severe form of the disease, to the long arm of chromosome 14, by linkage to probe MLJ14 at the D14S13 locus in 10 families of Western France ancestry (Z = 4.13 at theta = 0) [4].
  • A gene for Usher syndrome type I (USH1A) maps to chromosome 14q [4].


  1. Evidence for a fourth locus in Usher syndrome type I. Gerber, S., Larget-Piet, D., Rozet, J.M., Bonneau, D., Mathieu, M., Der Kaloustian, V., Munnich, A., Kaplan, J. J. Med. Genet. (1996) [Pubmed]
  2. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Astuto, L.M., Weston, M.D., Carney, C.A., Hoover, D.M., Cremers, C.W., Wagenaar, M., Moller, C., Smith, R.J., Pieke-Dahl, S., Greenberg, J., Ramesar, R., Jacobson, S.G., Ayuso, C., Heckenlively, J.R., Tamayo, M., Gorin, M.B., Reardon, W., Kimberling, W.J. Am. J. Hum. Genet. (2000) [Pubmed]
  3. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Chaïb, H., Kaplan, J., Gerber, S., Vincent, C., Ayadi, H., Slim, R., Munnich, A., Weissenbach, J., Petit, C. Hum. Mol. Genet. (1997) [Pubmed]
  4. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Kaplan, J., Gerber, S., Bonneau, D., Rozet, J.M., Delrieu, O., Briard, M.L., Dollfus, H., Ghazi, I., Dufier, J.L., Frézal, J. Genomics (1992) [Pubmed]
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