USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

Ronald J.E. Pennings; Heleen Te Brinke; Michael D. Weston; Annemarie Claassen; Dana J. Orten; Henriëtte Weekamp; Annelies Van Aarem; Patrick L.M. Huygen; August F. Deutman; Lies H. Hoefsloot; Frans P.M. Cremers; Cor W.R.J. Cremers; William J. Kimberling; Hannie Kremer

doi:10.1002/humu.9259

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

Ronald J.E. Pennings, Heleen Te Brinke, Michael D. Weston, Annemarie Claassen, Dana J. Orten, Henriëtte Weekamp, Annelies Van Aarem, Patrick L.M. Huygen, August F. Deutman, Lies H. Hoefsloot, Frans P.M. Cremers, Cor W.R.J. Cremers, William J. Kimberling, Hannie Kremer

Center for Sensory Neuroscience

Research output: Contribution to journal › Article

33 Scopus citations

Abstract

Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis of USH2A was performed in 70 Dutch USH2 families. Ten mutations in USH2A were detected, of which three are novel, c.949C>A, c.2242C>T (p.Gln748X) and c.4405C>T (p.Gln1468X). Including 9 previously published Dutch USH2a families, estimates of the prevalence of USH2a in the Dutch USH2 population were made. Mutations were identified in 62% of the families. In 28% both mutated alleles were identified, whereas in 34% the mutation in only one allele was found. It is estimated that about 28% of the Dutch USH2 families have a different causative gene. Analysis of deduced haplotypes suggests that c.1256G>T (p.Cys419Phe) is a Dutch ancestral mutation, occurring in 16% of the alleles.

Original language	English (US)
Number of pages	1
Journal	Human mutation
Volume	24
Issue number	2
DOIs	https://doi.org/10.1002/humu.9259
State	Published - Aug 2004

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ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Pennings, R. J. E., Te Brinke, H., Weston, M. D., Claassen, A., Orten, D. J., Weekamp, H., Van Aarem, A., Huygen, P. L. M., Deutman, A. F., Hoefsloot, L. H., Cremers, F. P. M., Cremers, C. W. R. J., Kimberling, W. J., & Kremer, H. (2004). USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Human mutation, 24(2). https://doi.org/10.1002/humu.9259

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. / Pennings, Ronald J.E.; Te Brinke, Heleen; Weston, Michael D.; Claassen, Annemarie; Orten, Dana J.; Weekamp, Henriëtte; Van Aarem, Annelies; Huygen, Patrick L.M.; Deutman, August F.; Hoefsloot, Lies H.; Cremers, Frans P.M.; Cremers, Cor W.R.J.; Kimberling, William J.; Kremer, Hannie.

In: Human mutation, Vol. 24, No. 2, 08.2004.

Research output: Contribution to journal › Article

Pennings, Ronald J.E. ; Te Brinke, Heleen ; Weston, Michael D. ; Claassen, Annemarie ; Orten, Dana J. ; Weekamp, Henriëtte ; Van Aarem, Annelies ; Huygen, Patrick L.M. ; Deutman, August F. ; Hoefsloot, Lies H. ; Cremers, Frans P.M. ; Cremers, Cor W.R.J. ; Kimberling, William J. ; Kremer, Hannie. / USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. In: Human mutation. 2004 ; Vol. 24, No. 2.

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