Genetic heterogeneity of Usher syndrome type II

S. P. Dahl, William J Kimberling, M. B. Gorin, M. D. Weston, J. M.R. Furman, A. Pikus, C. Moller

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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.

Original languageEnglish (US)
Pages (from-to)843-848
Number of pages6
JournalJournal of Medical Genetics
Volume30
Issue number10
StatePublished - Jan 1 1993

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Usher Syndromes
Genetic Heterogeneity
Retinitis Pigmentosa
Sensorineural Hearing Loss
Genetic Markers
Genes
Clone Cells
Chromosomes
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Dahl, S. P., Kimberling, W. J., Gorin, M. B., Weston, M. D., Furman, J. M. R., Pikus, A., & Moller, C. (1993). Genetic heterogeneity of Usher syndrome type II. Journal of Medical Genetics, 30(10), 843-848.

Genetic heterogeneity of Usher syndrome type II. / Dahl, S. P.; Kimberling, William J; Gorin, M. B.; Weston, M. D.; Furman, J. M.R.; Pikus, A.; Moller, C.

In: Journal of Medical Genetics, Vol. 30, No. 10, 01.01.1993, p. 843-848.

Research output: Contribution to journalArticle

Dahl, SP, Kimberling, WJ, Gorin, MB, Weston, MD, Furman, JMR, Pikus, A & Moller, C 1993, 'Genetic heterogeneity of Usher syndrome type II', Journal of Medical Genetics, vol. 30, no. 10, pp. 843-848.
Dahl SP, Kimberling WJ, Gorin MB, Weston MD, Furman JMR, Pikus A et al. Genetic heterogeneity of Usher syndrome type II. Journal of Medical Genetics. 1993 Jan 1;30(10):843-848.
Dahl, S. P. ; Kimberling, William J ; Gorin, M. B. ; Weston, M. D. ; Furman, J. M.R. ; Pikus, A. ; Moller, C. / Genetic heterogeneity of Usher syndrome type II. In: Journal of Medical Genetics. 1993 ; Vol. 30, No. 10. pp. 843-848.
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