Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Oct;30(10):843–848. doi: 10.1136/jmg.30.10.843

Genetic heterogeneity of Usher syndrome type II.

S Pieke Dahl 1, W J Kimberling 1, M B Gorin 1, M D Weston 1, J M Furman 1, A Pikus 1, C Möller 1
PMCID: PMC1016567  PMID: 7901420

Abstract

Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p < 0.05. Further clinical evaluation of this family was done in light of the linkage results to determine if any phenotypic characteristics would allow for clinical identification of the unlinked type. No clear phenotypic differences were observed; however, this unlinked family may represent a previously unreported subtype of Usher type II characterised by a milder form of retinitis pigmentosa and mild vestibular abnormalities. Heterogeneity of Usher syndrome type II complicates efforts to isolate and clone Usher syndrome genes using linkage analysis and limits the use of DNA markers in early detection of Usher type II.

Full text

PDF
843

Images in this article

845Image
on p.845
846Image
on p.846
847Image
on p.847

Selected References

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

  1. Dracopoli N. C., O'Connell P., Elsner T. I., Lalouel J. M., White R. L., Buetow K. H., Nishimura D. Y., Murray J. C., Helms C., Mishra S. K. The CEPH consortium linkage map of human chromosome 1. Genomics. 1991 Apr;9(4):686–700. doi: 10.1016/0888-7543(91)90362-i. [DOI] [PubMed] [Google Scholar]
  2. Gorlin R. J., Tilsner T. J., Feinstein S., Duvall A. J., 3rd Usher's syndrome type III. Arch Otolaryngol. 1979 Jun;105(6):353–354. doi: 10.1001/archotol.1979.00790180051011. [DOI] [PubMed] [Google Scholar]
  3. HALLGREN B. Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study. Acta Psychiatr Scand Suppl. 1959;34(138):1–101. [PubMed] [Google Scholar]
  4. 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]
  5. Kaplan J., Guasconi G., Bonneau D., Melki J., Briard M. L., Munnich A., Dufier J. L., Frézal J. Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. Ann Genet. 1990;33(2):105–108. [PubMed] [Google Scholar]
  6. Karjalainen S., Teräsvirta M., Kärjä J., Käriäinen H. Usher's syndrome type III: ENG findings in four affected and six unaffected siblings. J Laryngol Otol. 1985 Jan;99(1):43–48. doi: 10.1017/s0022215100096262. [DOI] [PubMed] [Google Scholar]
  7. Keats B. J., Todorov A. A., Atwood L. D., Pelias M. Z., Hejtmancik J. F., Kimberling W. J., Leppert M., Lewis R. A., Smith R. J. Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium. Genomics. 1992 Nov;14(3):707–714. doi: 10.1016/s0888-7543(05)80172-7. [DOI] [PubMed] [Google Scholar]
  8. Kimberling W. J., Möller C. G., Davenport S. L., Lund G., Grissom T. J., Priluck I., White V., Weston M. D., Biscone-Halterman K., Brookhouser P. E. Usher syndrome: clinical findings and gene localization studies. Laryngoscope. 1989 Jan;99(1):66–72. doi: 10.1288/00005537-198901000-00013. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. 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]
  11. Lewis R. A., Otterud B., Stauffer D., Lalouel J. M., Leppert M. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics. 1990 Jun;7(2):250–256. doi: 10.1016/0888-7543(90)90547-8. [DOI] [PubMed] [Google Scholar]
  12. Möller C. G., Kimberling W. J., Davenport S. L., Priluck I., White V., Biscone-Halterman K., Odkvist L. M., Brookhouser P. E., Lund G., Grissom T. J. Usher syndrome: an otoneurologic study. Laryngoscope. 1989 Jan;99(1):73–79. doi: 10.1288/00005537-198901000-00014. [DOI] [PubMed] [Google Scholar]
  13. 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]
  14. Weber J. L. Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics. 1990 Aug;7(4):524–530. doi: 10.1016/0888-7543(90)90195-z. [DOI] [PubMed] [Google Scholar]

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

RESOURCES