Genetic heterogeneity of Usher syndrome type II: Localisation to chromosome 5q

S. Pieke-Dahl, C. G. Möller, P. M. Kelley, L. M. Astuto, C. W.R.J. Cremers, M. B. Gorin, W. J. Kimberling

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. The USH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A and USH3 on 3q25. After a second unlinked family with many affected members and a mild retinal phenotype was discovered, a genome search using these two large families showed another Usher II locus on 5q (two point lod = 3.1 at D5S484). To date, we have identified nine unrelated 5q linked families (maximum combined multipoint lod = 5.86) as well as three Usher II families that show no significant linkage to any known Usher loci. Haplotype analysis of 5q markers indicates that the new locus is flanked by D5S428 and D5S433. Review of ophthalmological data suggests that RP symptoms are milder in 5q linked families; the RP is often not diagnosed until patients near their third decade. Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II.

Original languageEnglish (US)
Pages (from-to)256-262
Number of pages7
JournalJournal of medical genetics
Volume37
Issue number4
StatePublished - May 18 2000

Fingerprint

Usher Syndromes
Genetic Heterogeneity
Retinitis Pigmentosa
Chromosomes
Hearing Loss
Dental Enamel Hypoplasia
Haplotypes
Tooth
Genome

Keywords

  • Chromosome 5q
  • Hearing loss
  • Retinitis pigmentosa
  • Usher syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Pieke-Dahl, S., Möller, C. G., Kelley, P. M., Astuto, L. M., Cremers, C. W. R. J., Gorin, M. B., & Kimberling, W. J. (2000). Genetic heterogeneity of Usher syndrome type II: Localisation to chromosome 5q. Journal of medical genetics, 37(4), 256-262.

Genetic heterogeneity of Usher syndrome type II : Localisation to chromosome 5q. / Pieke-Dahl, S.; Möller, C. G.; Kelley, P. M.; Astuto, L. M.; Cremers, C. W.R.J.; Gorin, M. B.; Kimberling, W. J.

In: Journal of medical genetics, Vol. 37, No. 4, 18.05.2000, p. 256-262.

Research output: Contribution to journalArticle

Pieke-Dahl, S, Möller, CG, Kelley, PM, Astuto, LM, Cremers, CWRJ, Gorin, MB & Kimberling, WJ 2000, 'Genetic heterogeneity of Usher syndrome type II: Localisation to chromosome 5q', Journal of medical genetics, vol. 37, no. 4, pp. 256-262.
Pieke-Dahl S, Möller CG, Kelley PM, Astuto LM, Cremers CWRJ, Gorin MB et al. Genetic heterogeneity of Usher syndrome type II: Localisation to chromosome 5q. Journal of medical genetics. 2000 May 18;37(4):256-262.
Pieke-Dahl, S. ; Möller, C. G. ; Kelley, P. M. ; Astuto, L. M. ; Cremers, C. W.R.J. ; Gorin, M. B. ; Kimberling, W. J. / Genetic heterogeneity of Usher syndrome type II : Localisation to chromosome 5q. In: Journal of medical genetics. 2000 ; Vol. 37, No. 4. pp. 256-262.
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