Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1998 Aug;35(8):666–667. doi: 10.1136/jmg.35.8.666

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

P Gasparini 1, A De Fazio 1, A I Croce 1, P Stanziale 1, L Zelante 1
PMCID: PMC1051393  PMID: 9719374

Abstract

We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

Full text

PDF
666

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Joensuu T., Blanco G., Pakarinen L., Sistonen P., Käriäinen H., Brown S., 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 Dec 15;38(3):255–263. doi: 10.1006/geno.1996.0626. [DOI] [PubMed] [Google Scholar]
  2. Kaplan J., Gerber S., Bonneau D., Rozet J. M., Delrieu O., Briard M. L., Dollfus H., Ghazi I., Dufier J. L., Frézal J. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics. 1992 Dec;14(4):979–987. doi: 10.1016/s0888-7543(05)80120-x. [DOI] [PubMed] [Google Scholar]
  3. Kimberling W. J., Möller C. G., Davenport S., Priluck I. A., Beighton P. H., Greenberg J., Reardon W., Weston M. D., Kenyon J. B., Grunkemeyer J. A. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 1992 Dec;14(4):988–994. doi: 10.1016/s0888-7543(05)80121-1. [DOI] [PubMed] [Google Scholar]
  4. Kimberling W. J., Weston M. D., Möller C., Davenport S. L., Shugart Y. Y., Priluck I. A., Martini A., Milani M., Smith R. J. Localization of Usher syndrome type II to chromosome 1q. Genomics. 1990 Jun;7(2):245–249. doi: 10.1016/0888-7543(90)90546-7. [DOI] [PubMed] [Google Scholar]
  5. Kimberling W. J., Weston M. D., Möller C., van Aarem A., Cremers C. W., Sumegi J., Ing P. S., Connolly C., Martini A., Milani M. Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. Am J Hum Genet. 1995 Jan;56(1):216–223. [PMC free article] [PubMed] [Google Scholar]
  6. Sankila E. M., Pakarinen L., Käriäinen 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 Jan;4(1):93–98. doi: 10.1093/hmg/4.1.93. [DOI] [PubMed] [Google Scholar]
  7. Smith R. J., Berlin C. I., Hejtmancik J. F., Keats B. J., Kimberling W. J., Lewis R. A., Möller C. G., Pelias M. Z., Tranebjaerg L. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet. 1994 Mar 1;50(1):32–38. doi: 10.1002/ajmg.1320500107. [DOI] [PubMed] [Google Scholar]
  8. Smith R. J., Lee E. C., Kimberling W. J., Daiger S. P., Pelias M. Z., Keats B. J., Jay M., Bird A., Reardon W., Guest M. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 1992 Dec;14(4):995–1002. doi: 10.1016/s0888-7543(05)80122-3. [DOI] [PubMed] [Google Scholar]
  9. Smith R. J., Pelias M. Z., Daiger S. P., Keats B., Kimberling W., Hejtmancik J. F. Clinical variability and genetic heterogeneity within the Acadian Usher population. Am J Med Genet. 1992 Aug 1;43(6):964–969. doi: 10.1002/ajmg.1320430612. [DOI] [PubMed] [Google Scholar]
  10. Wayne S., Der Kaloustian V. M., Schloss M., Polomeno R., Scott D. A., Hejtmancik J. F., Sheffield V. C., Smith R. J. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet. 1996 Oct;5(10):1689–1692. doi: 10.1093/hmg/5.10.1689. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES