Epidemiology of Usher Syndrome in Valencia and SpainEspinós C.a · Millán J.M.b · Beneyto M.b · Nájera C.a
a Departamento de Genética, Facultad de Ciencias Biológicas, Universidad de Valencia, b Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain
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Objective: To obtain epidemiological data on the prevalence of the different types of Usher syndrome (US) in Spain, since these data were missing; to estimate the proportion of sporadic cases among simplex families, and calculate the prevalence of the Usher syndrome in a homogeneous population from Eastern Spain (3,875,234 inhabitants) that is representative of the Spanish population. Methods: Otological, ophthalmological and genetic studies were performed in 89 US patients from 46 families and subjected to statistical and segregation analysis. Results: 41.6% of them suffered US type I, 46.1% type II, and in 12.3% the classification remains unclear. The estimated prevalence for the Province of Valencia was 4.2/100,000. There was a notable excess of male-only affected multiplex sibships in our sample that could be attributable to an X-linked inheritance. Conclusions: The number of families with USI type was similar to that of families with USII type. The estimated prevalence for the Province of Valencia is in agreement with other reports in which the estimate for the prevalence of US ranges from 1.8 to 6.2/100,000.
- Smith RJH, Berlin CI, Hejtmancik JF, Keats BJB, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjoerg L: Clinical diagnosis of the Usher syndromes. Am J Med Genet 1994;50:32–38.
Davenport SLH, Omenn GS: The heterogeneity of Usher syndrome (abstract 215) Excerpta Medica, 1997, pp 87–88.
- Davenport SLH, O’Nuallain S, Omenn GS, Wilkus RJ: Usher syndrome in four hard-of-hearing siblings. Pediatrics 1978;62:578–583.
- Kimberling WJ, Möller CG: Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 1995;6:63–72.
- Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, Munnich A: A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 1992;14:979–987.
- Kimberling WJ, Möller C, Davenport SLH, Priluck IA, Beighton PH, Reardon W, Kenyon JB, Grunkemeyer JA, Pieke Dahl S, Overbeck LD, Blackwood DJ, Brower AM, Hoover DM, Rowland P, Smith RJH: Linkage of Usher syndrome type I gene to the long arm of chromosome 11. Genomics 1992;14:988–994.
- Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJB, Jay M, Bird A, Reardon W, Guest M, Ayyagari R, Hejtmancik JF: Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 1992;14:995–1002.
- Wayne S, Der Kaloustian VMD, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJH: Localization of the Usher syndrome type ID gene (USH1D) to chromosome 10. Hum Mol Genet 1996;5:1689–1692.
- Chaïb H, Kaplan S, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C: A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet 1997;6:27–31.
Wayne S, Lowry RB, McLeod DR, Knaus R, Farr C, Smith RJH: Localization of the Usher syndrome type IF (USH1F) to chromosome 10. Am J Hum Genet 1997;61(suppl):1752.
- Kimberling WJ, Weston MD, Möller C, Davenport SLH, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJH: Localization of Usher syndrome type II to chromosome 1q. Genomics 1990;7:245–249.
- Lewis RA, Otterud B, Stauffer D, Lalouel JM, Leppert M: Mapping recessive ophthalmic diseases. Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 1990;7:250–256.
- Sankila EM, Pakarinen L, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A: Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995;4:93–98.
- Pieke-Dahl S, Kimberling WJ, Gorin MB, Weston MD, Furman JM, Pikus A, Möller C: Genetic heterogeneity of Usher syndrome type II. J Med Genet 1993;30:843–848.
- Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SDM, Petit C: Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature 1995;374:60–61.
- Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Möller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J: Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998;280:1753–1757.
- Boughman JA, Vernon M, Shaker KA: Usher syndrome: Definition and estimate of prevalence from two high-risk populations. J Chronic Dis 1983;36:595–603.
Hallgren B: Retinitis pigmentosa combined with congenital deafness, with vestibulo-cerebellar ataxia and neural abnormality in a proportion of cases. Acta Psychiatr Scand Suppl 1959;138:1–101.
- Nuutila A: Dystrophia retinae pigmentosa- dysacusis syndrome (DRD): A study of the Usher or Hallgren syndrome. J Genet Hum 1970;18:57–88.
- Boughman JA, Fishman GA: A genetic analysis of retinitis pigmentosa. Br J Ophthalmol 1983;67:449–454.
- Grondahl J, Mjoen S: Usher syndrome in four Norwegian counties. Clin Genet 1986;30:14–28.
- Grondahl J: Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 1987;31:255–264.
- Tamayo ML, Bernal JE, Tamayo GE, Frias JL, Alvira G, Vergara O, Rodríguez V, Uribe JI, Silva JC: Usher syndrome: Results of a screening program in Colombia. Clin Genet 1991;40:304–311.
- Haim M: Prevalence of retinitis pigmentosa and allied disorder in Denmark. II. Systemic involvement and age at onset. Acta Ophthalmol 1992;70:417–426.
- Hope CI, Bundey S, Proops D, Fielder AR: Usher syndrome in the city of Birmingham – Prevalence and clinical classification. Br J Ophthalmol 1997;81:46–53.
- Rosenberg T, Haim M, Hauch A-M, Parving A: The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 1997;51:314–321.
Vernon M: Usher’s syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J Chronic Dis 1969;22:131–151.
Fisher RA: The effect of methods of ascertainment upon the estimation of frequencies. Ann Eugen 1934;6:13–21.
- Davie AM: The ‘singles’ method for segregation analysis under incomplete ascertainment. Ann Hum Genet 1979;42:507–512.
- Li CC, Mantel N: A simple method of estimation of segregation ratio under complete ascertainment. Am J Hum Genet 1968;20:61–81.
Yasuda N: A statistical analysis of the heterogeneity of inherited diseases. Jpn J Hum Genet 1981;26:1–17.
- Jay M: On the heredity of retinitis pigmentosa. Br J Ophthalmol 1982;66:405–416.
- Nájera C, Millán JM, Beneyto M, Prieto F: Epidemiology of retinitis pigmentosa in the Valencian Community (Spain). Genet Epidemiol 1995;12:37–46.
- Fishman GA, Kumar AJ, Maurice E, Torok N, Anderson RJ: Usher’s syndrome, ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol 1983;101:1367–1374.
- Kimberling WJ, Möller C, Davenport SLH, Lund G, Grissom TJ, Priluck I, White V, Weston MD, Biscone-Halterman K, Brookhouser PE: Usher syndrome: Clinical findings and gene localization studies. Laryngoscope 1989;99:66–72.
- Möller CG, Kimberling WJ, Davenport SLH, Priluck I, White V, Biscone-Halterman K, Ödkvist LM, Brookhouser PE, Lund G, Grissom TJ: Usher syndrome: An otoneurologic study. Laryngoscope 1989;99:73–79.
- Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling WJ, Cremers C: Clinical findings in obligate carriers of type I Usher syndrome. Am J Med Genet 1995;59:375–379.
- Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kääriänen H, Brown S, de la Chapelle A, 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. Genomics 1996;38:255–263.
- Pakarinen L, Karjalainen S, Simola KOJ, Laippala P, Kaitalo H: Usher’s syndrome type 3 in Finland. Laryngoscope 1995;105:613–617.
- Espinós C, Nájera C, Millán JM, Ayuso C, Baiget M, Pérez-Garrigues, Rodrigo O, Vilela C, Beneyto M: Linkage analysis in Usher syndrome type I (USH1) families from Spain. J Med Genet 1998;35:391–398.
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