Expressivity of hearing loss in cases with Usher syndrome type IIA

References

• Aller E., Najera C., Millan J.M., Oltra J.S., & Perez-Garrigues H. et al. 2004. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet, 12, 407–410.
   PubMed Web of Science ®Google Scholar
• Baux D., Faugere V., Larrieu L., Le Guedard-Mereuze S., Hamroun D. et al. 2008. UMD-USHbases: A comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Human Mutation, 29, E76–87.
   Google Scholar
• Baux D., Larrieu L., Blanchet C., Hamel C., Ben Salah S. et al. 2007. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Human Mutation, 28, 781–789.
   PubMed Web of Science ®Google Scholar
• Bernal S., Ayuso C., Antinolo G., Gimenez A., Borrego S. et al. 2003. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: High prevalence and phenotypic variation. J Med Genet, 40, e8.
   PubMedGoogle Scholar
• Bhattacharya G., Kalluri R., Orten D.J., Kimberling W.J. & Cosgrove D. 2004. A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. J Cell Sci, 117, 233–242.
   PubMedGoogle Scholar
• Dreyer B. 2004. Molecular Genetic Aspects of Usher syndrome type II Medical Genetic. Tromso: University of Tromso.
   Google Scholar
• Dreyer B., Brox V., Tranebjaerg L., Rosenberg T., Sadeghi A.M. et al. 2008. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Human Mutation, 29, 451.
   PubMed Web of Science ®Google Scholar
• Dreyer B., Tranebjaerg L., Brox V., Rosenberg T. & Moller C. et al. 2001. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet, 69, 228–234.
   PubMed Web of Science ®Google Scholar
• Dreyer B., Tranebjaerg L., Rosenberg T., Weston M.D., Kimberling W.J. et al. 2000. Identification of novel USH2A mutations: Implications for the structure of USH2A protein. Eur J Hum Genet, 8, 500–506.
   PubMed Web of Science ®Google Scholar
• Ebermann I., Phillips J.B., Liebau M.C., Koenekoop R.K., Schermer B. et al. 2010. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest, 120, 1812–1823.
   PubMed Web of Science ®Google Scholar
• Eudy J.D., Weston M.D., Yao S., Hoover D.M., Rehm H.L. et al. 1998. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science, 280, 1753–1757.
   PubMed Web of Science ®Google Scholar
• Hmani-Aifa M., Ben Arab S., Kharrat K., Orten D.J., Boulila-Elgaied A. et al. 2002. Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome. J Med Genet, 39, 281–283.
   PubMed Web of Science ®Google Scholar
• Hmani M., Ghorbel A., Boulila-Elgaied A., Ben Zina Z., Kammoun W. et al. 1999. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet, 7, 363–367.
   PubMed Web of Science ®Google Scholar
• Hope C.I., Bundey S., Proops D. & Fielder A.R. 1997. Usher syndrome in the city of Birmingham: Prevalence and clinical classification. Br J Ophthalmol, 81, 46–53.
   PubMed Web of Science ®Google Scholar
• International Organization for Standardization, 1989. Acoustics-Audiometric test methods Part 1: Basic pure-tone air- and bone-conduction threshold audiometry. ISO 8253-1. Geneva: ISO.
   Google Scholar
• Kimberling W.J., Orten D. & Pieke-Dahl S. 2000. Genetic heterogeneity of Usher syndrome. Adv Otorhinolaryngol, 56, 11–18.
   PubMedGoogle Scholar
• Kimberling W.J., Orten D.J. & Pieke Dahl S. 2000. Genetik Heterogeneity of Usher syndrome. In: K. Kitamura & K.P. Steel (eds.). Genetics in Otorhinolaryngology, Basel, pp. 11–18.
   Google Scholar
• Leroy B.P., Aragon-Martin J.A., Weston M.D., Bessant D.A., Willis C. et al. 2001. Spectrum of mutations in USH2A in British patients with Usher syndrome type II. Exp Eye Res, 72, 503–509.
   PubMed Web of Science ®Google Scholar
• Liu X.Z., Hope C., Liang C.Y., Zou J.M., Xu L.R. et al. 1999. A mutation (2314delG) in the Usher syndrome type IIA gene: High prevalence and phenotypic variation. Am J Hum Genet, 64, 1221–1225.
   PubMedGoogle Scholar
• McGee T.L., Seyedahmadi B.J., Sweeney M.O., Dryja T.P. & Berson E.L. 2010. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. Journal of Medical Genetics, 47, 499–506.
   PubMed Web of Science ®Google Scholar
• Moller C.G., Kimberling W.J., Davenport S.L., Priluck I., White V. et al. 1989. Usher syndrome: An otoneurologic study. Laryngoscope, 99, 73–79.
   PubMed Web of Science ®Google Scholar
• Nuutila A. 1970. Dystrophia retinae pigmentosa: Dysacusis syndrome (DRD): A study of the Usher- or Hallgren syndrome. J Genet Hum, 18, 57–88.
   PubMedGoogle Scholar
• Ouyang X.M., Hejtmancik J.F., Jacobson S.G., Li A.R., Du L.L. et al. 2004. Mutational spectrum in Usher syndrome type II. Clin Genet, 65, 288–293.
   PubMed Web of Science ®Google Scholar
• Pearsall N., Bhattacharya G., Wisecarver J., Adams J., Cosgrove D. et al. 2002. Usherin expression is highly conserved in mouse and human tissues. Hear Res, 174, 55–63.
   PubMedGoogle Scholar
• Pennings R.J., Huygen P.L., Weston M.D., van Aarem A., Wagenaar M. et al. 2003. Pure-tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene. Otol Neurotol, 24, 58–63.
   PubMed Web of Science ®Google Scholar
• Pennings R.J., Te Brinke H., Weston M.D., Claassen A., Orten D.J. et al. 2004. USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat, 24, 185.
   PubMedGoogle Scholar
• Rosenberg T., Haim M., Hauch A.M. & Parving A. 1997. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet, 51, 314–321.
   PubMed Web of Science ®Google Scholar
• Sadeghi M., Cohn E.S., Kelly W.J., Kimberling W.J., Tranebjoerg L. et al. 2004. Audiological findings in Usher syndrome types IIa and II (non-IIa). Int J Audiol, 43, 136–143.
   PubMed Web of Science ®Google Scholar
• Sadeghi M., Kimberling W.J., Tranebjaerg L. & Möller C. 2004. The prevalence of Usher syndrome in Sweden: A nationwide epidemiological and clinical survey. Audiological Medicine, 2, 220–228.
   Google Scholar
• Smith R.J., Berlin C.I., Hejtmancik J.F., Keats B.J., Kimberling W.J. et al. 1994. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet, 50, 32–38.
   PubMed Web of Science ®Google Scholar
• Spandau U.H. & Rohrschneider K. 2002. Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol, 240, 495–498.
   PubMed Web of Science ®Google Scholar
• Stephens D. 2001. Audiological terms. In: A. Martini, M. Mazzoli, D. Stephens & A. Read (eds.), Definitions, Protocols & Guidelines in Genetic Hearing Impairment. London and Philadelphia: Whurr Publishers, pp. 9–14.
   Google Scholar
• Wagenaar M., van Aarem A., Huygen P., Pieke-Dahl S., Kimberling W. et al. 1999. Hearing impairment related to age in Usher syndrome types 1B and 2A. Arch Otolaryngol Head Neck Surg, 125, 441–445.
   PubMedGoogle Scholar
• van Aarem A., Pinckers A.J., Kimberling W.J., Huygen P.L., Bleeker-Wagemakers E.M. et al. 1996. Stable and progressive hearing loss in type 2A Usher s syndrome. Ann Otol Rhinol Laryngol, 105, 962–967.
   PubMed Web of Science ®Google Scholar
• Vernon M. 1969. Usher's syndrome: Deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J Chronic Dis, 22, 133–151.
   PubMedGoogle Scholar
• Weston M.D., Eudy J.D., Fujita S., Yao S., Usami S. et al. 2000. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet, 66, 1199–1210.
   PubMed Web of Science ®Google Scholar
• Weston M.D., Luijendijk M.W., Humphrey K.D., Moller C. & Kimberling W.J. 2004. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet, 74, 357–366.
   PubMed Web of Science ®Google Scholar