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Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

References

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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. Ahmed,Z.M., Riazuddin,S., Khan,S.N., Friedman,P.L., Riazuddin,S., and Friedman,T.B. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. 2009; Clin Genet. 75: 86-91.
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8. 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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11. Ebermann,I., Koenekoop,R.K., Lopez,I., Bou-Khzam,L., Pigeon,R., and Bolz,H.J. An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 2009; Eur.J.Hum.Genet. 17: 80-84.
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12. Ebermann,I., Scholl,H.P., Charbel,I.P., Becirovic,E., Lamprecht,J., Jurklies,B., Millan,J.M., Aller,E., Mitter,D., and Bolz,H. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. 2007; Hum.Genet. 121: 203-211.
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13. 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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14. 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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15. 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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16. 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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17. 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 Goto Top
    
18. Hilgert,N., Kahrizi,K., Dieltjens,N., Bazazzadegan,N., Najmabadi,H., Smith,R.J., and Van,C.G. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. 2009; J.Med.Genet. 46: 272-276.
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19. 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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20. 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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21. 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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22. 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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23. 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 Goto Top
    
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25. 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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26. 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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27. 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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28. 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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29. Mburu,P., Mustapha,M., Varela,A., Weil,D., El-Amraoui,A., Holme,R.H., Rump,A., Hardisty,R.E., Blanchard,S., Coimbra,R.S., Perfettini,I., Parkinson,N., Mallon,A.M., Glenister,P., Rogers,M.J., Paige,A.J., Moir,L., Clay,J., Rosenthal,A., Liu,X.Z., Blanco,G., Steel,K.P., Petit,C., and Brown,S.D. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. 2003; Nat.Genet. 34: 421-428.
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30. Mustapha,M., Chouery,E., Chardenoux,S., Naboulsi,M., Paronnaud,J., Lemainque,A., Megarbane,A., Loiselet,J., Weil,D., Lathrop,M., and Petit,C. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. 2002; Eur.J.Hum.Genet. 10: 210-212.
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31. 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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32. 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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33. 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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34. 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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35. 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 Goto Top
    
36. 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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37. 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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38. 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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39. 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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40. 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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41. 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 Goto Top
    
42. 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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43. 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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44. 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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45. 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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46. Zheng,Q.Y., Yan,D., Ouyang,X.M., Du,L.L., Yu,H., Chang,B., Johnson,K.R., and Liu,X.Z. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. 2005; Hum.Mol.Genet. 14: 103-111.
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