Disease Database Usher Syndrome

Recent update from: 07.03.04

MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

References

1. Adato,A., Vreugde,S., Joensuu,T., Avidan,N., Hamalainen,R., Belenkiy,O., Olender,T., Bonne-Tamir,B., Ben Asher,E., Espinos,C., Millan,J.M., Lehesjoki,A.E., Flannery,J.G., Avraham,K.B., Pietrokovski,S., Sankila,E.M., Beckmann,J.S., and Lancet,D. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 2002; Eur.J.Hum.Genet. 10: 339-350.
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2. Adato,A., Weil,D., Kalinski,H., Pelor,Y., Ayadi,H., Petit,C., Korostishevsky,M., and Bonnetamir,B. Mutation Profile Of All 49 Exons Of The Human Myosin VIIA Gene, And Haplotype Analysis, In Usher 1b Families From Diverse Origins. 1997; Am.J.Hum.Genet. 61: 813-821.
   
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3. Alagramam,K.N., Yuan,H., Kuehn,M.H., Murcia,C.L., Wayne,S., Srisailpathy,C.R., Lowry,R.B., Knaus,R., Van Laer,L., Bernier,F.P., Schwartz,S., Lee,C., Morton,C.C., Mullins,R.F., Ramesh,A., Van Camp,G., Hagemen,G.S., Woychik,R.P., and Smith,R.J. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 2001; Hum.Mol.Genet. 10: 1709-1718.
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4. 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., and Kimberling,W.J. Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I. 2000; Am.J.Hum.Genet. 67: 1569-1574.
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5. Bork,J.M., Peters,L.M., Riazuddin,S., Bernstein,S.L., Ahmed,Z.M., Ness,S.L., Polomeno,R., Ramesh,A., Schloss,M., Srisailpathy,C.R., Wayne,S., Bellman,S., Desmukh,D., Ahmed,Z., Khan,S.N., Kaloustian,V.M., Li,X.C., Lalwani,A., Riazuddin,S., Bitner-Glindzicz,M., Nance,W.E., Liu,X.Z., Wistow,G., Smith,R.J., Griffith,A.J., Wilcox,E.R., Friedman,T.B., and Morell,R.J. Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23. 2001; Am.J.Hum.Genet. 68: 26-37.
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6. Chaib,H., Kaplan,J., Gerber,S., Vincent,C., Ayadi,H., Slim,R., Munnich,A., Weissenbach,J., and Petit,C. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21 A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. 1997; Hum.Mol.Genet. 6: 27-31.
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7. Cremers,F.P.M., Molloy,C.M., van de Pol,D.J.R., van den Hurk,J.A.J.M., Bach,I., van Kessel,A.H.M.G., Ropers,H.H., Cremers,F.P., van de Pol,D.J., van den Hurk,J.A., and Geurts van Kessel,A.H. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. 1992; Hum.Mol.Genet. 1: 71-75.
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8. De Angelis,M.M., Doucet,J.P., Drury,S., Sherry,S.T., Robichaux,M.B., Den,Z., Pelias,M.Z., Ditta,G.M., Keats,B.J., Deininger,P.L., and Batzer,M.A. Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene. 1998; Biochim.Biophys.Acta. 1407: 84-91.
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9. El Amraoui,A., Sahly,I., Picaud,S., Sahel,J., Abitbol,M., and Petit,C. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. 1996; Hum.Mol.Genet. 5: 1171-1178.
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10. Espinos,C., Najera,C., Millan,J.M., Ayuso,C., Baiget,M., Perez Garrigues,H., Rodrigo,O., Vilela,C., and Beneyto,M. Linkage analysis in Usher syndrome type I (USH1) families from Spain. 1998; J.Med.Genet. 35: 391-398.
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11. Eudy,J.D., Weston,M.D., Yao,S., Hoover,D.M., Rehm,H.L., Ma Edmonds,M., Yan,D., Ahmad,I., Cheng,J.J., Ayuso,C., Cremers,C., Davenport,S., Moller,C., Talmadge,C.B., Beisel,K.W., Tamayo,M., Morton,C.C., Swaroop,A., Kimberling,W.J., and Sumegi,J. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 1998; Science. 280: 1753-1757.
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12. Gerber,S., Larget Piet,D., Rozet,J.M., Bonneau,D., Mathieu,M., Der Kaloustian,V., Munnich,A., and Kaplan,J. Evidence for a fourth locus in Usher syndrome type I. 1996; J.Med.Genet. 33: 77-79.
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13. Hejtmancik,J.F., Nestorowicz,A., Li,Y., van Tuinen,P., Smith,H.R., Kaiser-Kupfer,M., Permutt,M.A., and Ayyagari,R. A YAC Contig Encompasing The Usher Syndrome Type 1C Locus On Chromosome 11p14-p15. 1. 1996; Invest.Ophthalmol.Vis.Sci. S656
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14. Hmani,M., Ghorbel,A., Boulila-Elgaied,A., Ben Zina,Z., Kammoun,W., Drira,M., Chaabouni,M., Petit,C., and Ayadi,H. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. 1999; Eur.J.Hum.Genet. 7: 363-367.
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15. Jain,P.K., Lalwani,A.K., Li,X.C., Singleton,T.L., Smith,T.N., Chen,A., Deshmukh,D., Verma,I.C., Smith,R.J., and Wilcox,E.R. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. 1998; Genomics. 50: 290-292.
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16. Joensuu,T., Blanco,G., Pakarinen,L., Sistonen,P., Kaariainen,H., Brown,S., Chapelle,A., and Sankila,E.M. Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. 1996; Genomics. 38: 255-263.
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17. Joensuu,T., Hamalainen,R., Yuan,B., Johnson,C., Tegelberg,S., Gasparini,P., Zelante,L., Pirvola,U., Pakarinen,L., Lehesjoki,A.E., la Chapelle,A., and Sankila,E.M. Mutations in a novel gene with transmembrane domains underlie usher syndrome type 3. 2001; Am.J.Hum.Genet. 69: 673-684.
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18. Joensuu,T.H., Hämäläinen,R.H., Lehesjoki,A.E., de la Chapelle,A., and Sankila,E.M. Refined physical and partial transcript map of the Usher syndrome type III region. 1998; Am.J.Hum.Genet. 63: A250
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19. Kaplan,J., Pelet,A., Martin,C., Delrieu,O., Ayme,S., Bonneau,D., Briard,M.L., Hanauer,A., Larget Piet,L., and Lefrancois,P. Phenotype-genotype correlations in X linked retinitis pigmentosa. 1992; J.Med.Genet. 29: 615-623.
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20. Keats,B.J., Nouri,N., Pelias,M.Z., Deininger,P.L., and Litt,M. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. 1994; Am.J.Hum.Genet. 54: 681-686.
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21. Kimberling,W.J., Aarem van,A., Sumegi,J., Connoly,C., Weston,M.D., Cremers,C.W.R.J., Suy,P.S., Martini,A., Milana,M., Tamayo,M.L., Bernal,J., Greenberg,J., Ayuso,C., Moller,C., van Aarem,A., Cremers,C.W., Ing,P.S., Connolly,C., and Milani,M. Gene mapping of Usher Syndrome Type IIa: Localisation of the gene to a 2.1 cM segment on chromosome 1q41. 1995; Am.J.Hum.Genet. 56: 216-223.
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22. Levy,G., Leviacobas,F., Blanchard,S., Gerber,S., Largetpiet,D., Chenal,V., Liu,X.Z., Newton,V., Steel,K.P., Brown,S.D.M., Munnich,A., Kaplan,J., Petit,C., Weil,D., Levi Acobas,F., Larget Piet,D., and Brown,S.D. Myosin VIIa Gene: Heterogeneity Of The Mutations Responsible For Usher Syndrome Type Ib. 1997; Hum.Mol.Genet. 6: 111-116.
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23. Mansergh,F.C., Millington-Ward,S., Kennan,A., Kiang,A.S., Humphries,M., Farrar,G.J., Humphries,P., and Kenna,P.F. Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene. 1999; Am.J.Hum.Genet. 64: 971-985.
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24. Mustapha,M., Chouery,E., Torchard-Pagnez,D., Nouaille,S., Khrais,A., Sayegh,F.N., Megarbane,A., Loiselet,J., Lathrop,M., Petit,C., and Weil,D. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 2002; Hum.Genet. 110: 348-350.
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25. Pieke-Dahl,S., Moller,C.G., Kelley,P.M., Astuto,L.M., Cremers,C.W., Gorin,M.B., and Kimberling,W.J. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. 2000; J.Med.Genet. 37: 256-262.
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26. Pieke Dahl,S., Kimberling,W.J., Gorin,M.B., Weston,M.D., Furman,J.M., Pikus,A., and Moller,C. Genetic heterogeneity of Usher syndrome type II. 1993; J.Med.Genet. 30: 843-848.
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27. Sankila,E.M., Pakarinen,L., Kaariainen,H., Aittomaki,K., Karjalainen,S., Sistonen,P., and de la Chapelle,A. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. 1995; Hum.Mol.Genet. 4: 93-98.
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28. Saouda,M., Mansour,A., Bou Moglabey,Y., El Zir,E., Mustapha,M., Chaib,H., Nehme,A., Megarbane,A., Loiselet,J., Petit,C., and Slim,R. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. 1998; Hum.Genet. 103: 193-198.
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29. Slim,R., Mansour,A., Bou Moglabey,Y., El Zir,E., Mustapha,M., and Loiselet,J. The Usher syndrome in the Lebanese population: evidence of further genetic heterogeneity in type I and III. 1998; Am.J.Hum.Genet. 63: A309
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30. Smith,J.C., Webb,T., Pembrey,M.E., Nichols,M., and Malcolm,S. Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome. 1992; Hum.Genet. 88: 376-378.
    
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31. Smith,R.J., Lee,E.C., Kimberling,W.J., Daiger,S.P., Pelias,M.Z., Keats,B.J.B., Jay,M., Bird,A.C., Reardon,W., Guest,M., Ayyagari,R., Hejtmancik,J.F., Keats,B.J., and Bird,A. Localization of two genes for Usher syndrome type I to chromosome 11. 1992; Genomics. 14: 995-1002.
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32. Sumegi,J., Wang,J.Y., Zhen,D.K., Eudy,J.D., Talmadge,C.B., Li,B.F., Berglund,P., Weston,M.D., Yao,S.F., Ma Edmonds,M., Overbeck,L., Kelley,P.M., Zabarovsky,E., Uzvolgyi,E., Stanbridge,E.J., Klein,G., and Kimberling,W.J. The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41. 1996; Genomics. 35: 79-86.
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33. Verpy,E., Leibovici,M., Zwaenepoel,I., Liu,X.Z., Gal,A., Salem,N., Mansour,A., Blanchard,S., Kobayashi,I., Keats,B.J., Slim,R., and Petit,C. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 2000; Nat.Genet. 26: 51-55.
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34. Wayne,S., Der Kaloustian,V.M., Schloss,M., Polomeno,R., Scott,D.A., Hejtmancik,J.F., Sheffield,V.C., and Smith,R.J. Localization of the Usher syndrome type ID gene (USH1D) to chromosome 10. 1996; Hum.Mol.Genet. 5: 1689-1692.
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35. Wayne,S., Lowry,R.B., Mcleod,D.R., Knaus,R., Farr,C., and Smith,R.J.H. Localization of the Usher syndrome type 1F (USH1F) to chromosome 10. 1997; Am.J.Hum.Genet. 61: A300
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36. Weil,D., Blanchard,S., Kaplan,J., Guilford,P., Gibson,F., Walsh,J., Mburu,P., Varela,A., Levilliers,J., Weston,M.D., Kelley,P.M., Kimberling,W.J., Wagenaar,M., Levi Acobas,F., Larget-Piet,D., Munnich,A., Steel,K.P., Brown,S.D.M., and Petit,C. Defective myosin VIIA gene responsible for Usher syndrome type 1B. 1995; Nature. 374: 60-61.
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37. Weil,D., El Amraoui,A., Masmoudi,S., Mustapha,M., Kikkawa,Y., Laine,S., Delmaghani,S., Adato,A., Nadifi,S., Zina,Z.B., Hamel,C., Gal,A., Ayadi,H., Yonekawa,H., and Petit,C. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. 2003; Hum.Mol.Genet. 12: 463-471.
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38. Weil,D., Kussel,P., Blanchard,S., Levy,G., Levi Acobas,F., Drira,M., Ayadi,H., and Petit,C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 1997; Nat.Genet. 16: 191-193.
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39. Weston,M.D., Luijendijk,M.W., Humphrey,K.D., Moller,C., and Kimberling,W.J. Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II. 2004; Am.J.Hum.Genet. 74: 357-366.
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