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Gene Review:

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

Homo sapiens

This record was discontinued.

Kaplan, J. et al., Gerber, S. et al., Chaïb, H. et al., Astuto, L.M. et al.

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Disease relevance of USH1A

Usher syndrome type I (US1) is an autosomal recessive condition in which three different genes have been already localised (USH1A, USH1B, and USH1C on chromosomes 14q32, 11q13, and 11p15 respectively) [1].

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].

References

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]
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]
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]
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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