Login to MyKarger

New to MyKarger? Click here to sign up.



Login with Facebook

Forgot your password?

Authors, Editors, Reviewers

For Manuscript Submission, Check or Review Login please go to Submission Websites List.

Submission Websites List

Institutional Login
(Shibboleth or Open Athens)

For the academic login, please select your country in the dropdown list. You will be redirected to verify your credentials.

Original Paper

Epidemiology of Usher Syndrome in Valencia and Spain

Espinós C.a · Millán J.M.b · Beneyto M.b · Nájera C.a

Author affiliations

a Departamento de Genética, Facultad de Ciencias Biológicas, Universidad de Valencia, b Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain

Related Articles for ""

Community Genet 1998;1:223–228

Do you have an account?

Login Information





Contact Information












By signing up for MyKarger you will automatically participate in our year-End raffle.
If you Then Do Not wish To participate, please uncheck the following box.

Yes, I wish To participate In the year-End raffle And Get the chance To win some Of our most interesting books, And other attractive prizes.


I have read the Karger Terms and Conditions and agree.



Login Information





Contact Information












By signing up for MyKarger you will automatically participate in our year-End raffle.
If you Then Do Not wish To participate, please uncheck the following box.

Yes, I wish To participate In the year-End raffle And Get the chance To win some Of our most interesting books, And other attractive prizes.


I have read the Karger Terms and Conditions and agree.



To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

CHF 38.00 *
EUR 35.00 *
USD 39.00 *

Select

KAB

Buy a Karger Article Bundle (KAB) and profit from a discount!

If you would like to redeem your KAB credit, please log in.


Save over 20% compared to the individual article price.
Learn more

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00


Select

Subscribe

  • Access to all articles of the subscribed year(s) guaranteed for 5 years
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select

* The final prices may differ from the prices shown due to specifics of VAT rules.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: June 17, 1999
Issue release date: June 1999

Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 6

ISSN: 1662-4246 (Print)
eISSN: 1662-8063 (Online)

For additional information: https://www.karger.com/PHG

Abstract

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.


References

  1. 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.
  2. Davenport SLH, Omenn GS: The heterogeneity of Usher syndrome (abstract 215) Excerpta Medica, 1997, pp 87–88.
  3. Davenport SLH, O’Nuallain S, Omenn GS, Wilkus RJ: Usher syndrome in four hard-of-hearing siblings. Pediatrics 1978;62:578–583.
    External Resources
  4. Kimberling WJ, Möller CG: Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 1995;6:63–72.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
    External Resources
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
    External Resources
  14. 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.
    External Resources
  15. 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.
  16. 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.
  17. 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.
    External Resources
  18. 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.
  19. Nuutila A: Dystrophia retinae pigmentosa- dysacusis syndrome (DRD): A study of the Usher or Hallgren syndrome. J Genet Hum 1970;18:57–88.
    External Resources
  20. Boughman JA, Fishman GA: A genetic analysis of retinitis pigmentosa. Br J Ophthalmol 1983;67:449–454.
  21. Grondahl J, Mjoen S: Usher syndrome in four Norwegian counties. Clin Genet 1986;30:14–28.
    External Resources
  22. Grondahl J: Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 1987;31:255–264.
    External Resources
  23. 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.
    External Resources
  24. Haim M: Prevalence of retinitis pigmentosa and allied disorder in Denmark. II. Systemic involvement and age at onset. Acta Ophthalmol 1992;70:417–426.
  25. 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.
  26. 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.
  27. Vernon M: Usher’s syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J Chronic Dis 1969;22:131–151.
  28. Fisher RA: The effect of methods of ascertainment upon the estimation of frequencies. Ann Eugen 1934;6:13–21.
  29. Davie AM: The ‘singles’ method for segregation analysis under incomplete ascertainment. Ann Hum Genet 1979;42:507–512.
    External Resources
  30. Li CC, Mantel N: A simple method of estimation of segregation ratio under complete ascertainment. Am J Hum Genet 1968;20:61–81.
    External Resources
  31. Yasuda N: A statistical analysis of the heterogeneity of inherited diseases. Jpn J Hum Genet 1981;26:1–17.
  32. Jay M: On the heredity of retinitis pigmentosa. Br J Ophthalmol 1982;66:405–416.
  33. Nájera C, Millán JM, Beneyto M, Prieto F: Epidemiology of retinitis pigmentosa in the Valencian Community (Spain). Genet Epidemiol 1995;12:37–46.
  34. 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.
    External Resources
  35. 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.
    External Resources
  36. 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.
  37. 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.
  38. 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.
  39. Pakarinen L, Karjalainen S, Simola KOJ, Laippala P, Kaitalo H: Usher’s syndrome type 3 in Finland. Laryngoscope 1995;105:613–617.
  40. 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.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: June 17, 1999
Issue release date: June 1999

Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 6

ISSN: 1662-4246 (Print)
eISSN: 1662-8063 (Online)

For additional information: https://www.karger.com/PHG


Copyright / Drug Dosage / Disclaimer

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.