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) |
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Number of pages | 1 |
Journal | Human mutation |
Volume | 24 |
Issue number | 2 |
DOIs | |
State | Published - Aug 2004 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
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
}
TY - JOUR
T1 - USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
AU - Pennings, Ronald J.E.
AU - Te Brinke, Heleen
AU - Weston, Michael D.
AU - Claassen, Annemarie
AU - Orten, Dana J.
AU - Weekamp, Henriëtte
AU - Van Aarem, Annelies
AU - Huygen, Patrick L.M.
AU - Deutman, August F.
AU - Hoefsloot, Lies H.
AU - Cremers, Frans P.M.
AU - Cremers, Cor W.R.J.
AU - Kimberling, William J.
AU - Kremer, Hannie
PY - 2004/8
Y1 - 2004/8
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=6044271433&partnerID=8YFLogxK
U2 - 10.1002/humu.9259
DO - 10.1002/humu.9259
M3 - Article
C2 - 15241801
AN - SCOPUS:6044271433
VL - 24
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 2
ER -