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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. / Friedrich, Katrin; Lee, Lin; Leistritz, Dru F; Nürnberg, Gudrun; Saha, Bidisha; Hisama, Fuki M; Eyman, Daniel K; Lessel, Davor; Nürnberg, Peter; Li, Chumei; Garcia-F-Villalta, María J; Kets, Carolien M; Schmidtke, Joerg; Cruz, Vítor Tedim; Akker, Van den; Peter, C; Boak, Joseph; Peter, Dincy; Compoginis, Goli; Cefle, Kivanc; Ozturk, Sukru; López, Norberto; Wessel, Theda; Poot, Martin; Ippel, P F; Groff-Kellermann, Birgit; Hoehn, Holger; Kubisch, Christian; Oshima, Junko.

In: HUM GENET, Vol. 128, No. 1, 1, 2010, p. 103-111.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Friedrich, K, Lee, L, Leistritz, DF, Nürnberg, G, Saha, B, Hisama, FM, Eyman, DK, Lessel, D, Nürnberg, P, Li, C, Garcia-F-Villalta, MJ, Kets, CM, Schmidtke, J, Cruz, VT, Akker, VD, Peter, C, Boak, J, Peter, D, Compoginis, G, Cefle, K, Ozturk, S, López, N, Wessel, T, Poot, M, Ippel, PF, Groff-Kellermann, B, Hoehn, H, Kubisch, C & Oshima, J 2010, 'WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.', HUM GENET, vol. 128, no. 1, 1, pp. 103-111. <http://www.ncbi.nlm.nih.gov/pubmed/20443122?dopt=Citation>

APA

Friedrich, K., Lee, L., Leistritz, D. F., Nürnberg, G., Saha, B., Hisama, F. M., Eyman, D. K., Lessel, D., Nürnberg, P., Li, C., Garcia-F-Villalta, M. J., Kets, C. M., Schmidtke, J., Cruz, V. T., Akker, V. D., Peter, C., Boak, J., Peter, D., Compoginis, G., ... Oshima, J. (2010). WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. HUM GENET, 128(1), 103-111. [1]. http://www.ncbi.nlm.nih.gov/pubmed/20443122?dopt=Citation

Vancouver

Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM et al. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. HUM GENET. 2010;128(1):103-111. 1.

Bibtex

@article{ca2e1ed7dcc8469e9b99951208094c63,
title = "WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.",
abstract = "Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutations, including two genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and two rare missense mutations. We also review evidence for founder mutations among various ethnic/geographic groups. Founder WRN mutations had been previously reported in Japan and Northern Sardinia. Our Registry now suggests characteristic mutations originated in Morocco, Turkey, The Netherlands and elsewhere.",
keywords = "Humans, Male, Female, Mutation, Missense, Founder Effect, *Mutation, Chromosome Breakpoints, Introns, Exodeoxyribonucleases/*genetics, RecQ Helicases/*genetics, Werner Syndrome/*genetics, Humans, Male, Female, Mutation, Missense, Founder Effect, *Mutation, Chromosome Breakpoints, Introns, Exodeoxyribonucleases/*genetics, RecQ Helicases/*genetics, Werner Syndrome/*genetics",
author = "Katrin Friedrich and Lin Lee and Leistritz, {Dru F} and Gudrun N{\"u}rnberg and Bidisha Saha and Hisama, {Fuki M} and Eyman, {Daniel K} and Davor Lessel and Peter N{\"u}rnberg and Chumei Li and Garcia-F-Villalta, {Mar{\'i}a J} and Kets, {Carolien M} and Joerg Schmidtke and Cruz, {V{\'i}tor Tedim} and Akker, {Van den} and C Peter and Joseph Boak and Dincy Peter and Goli Compoginis and Kivanc Cefle and Sukru Ozturk and Norberto L{\'o}pez and Theda Wessel and Martin Poot and Ippel, {P F} and Birgit Groff-Kellermann and Holger Hoehn and Christian Kubisch and Junko Oshima",
year = "2010",
language = "English",
volume = "128",
pages = "103--111",
journal = "HUM GENET",
issn = "0340-6717",
publisher = "Springer",
number = "1",

}

RIS

TY - JOUR

T1 - WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

AU - Friedrich, Katrin

AU - Lee, Lin

AU - Leistritz, Dru F

AU - Nürnberg, Gudrun

AU - Saha, Bidisha

AU - Hisama, Fuki M

AU - Eyman, Daniel K

AU - Lessel, Davor

AU - Nürnberg, Peter

AU - Li, Chumei

AU - Garcia-F-Villalta, María J

AU - Kets, Carolien M

AU - Schmidtke, Joerg

AU - Cruz, Vítor Tedim

AU - Akker, Van den

AU - Peter, C

AU - Boak, Joseph

AU - Peter, Dincy

AU - Compoginis, Goli

AU - Cefle, Kivanc

AU - Ozturk, Sukru

AU - López, Norberto

AU - Wessel, Theda

AU - Poot, Martin

AU - Ippel, P F

AU - Groff-Kellermann, Birgit

AU - Hoehn, Holger

AU - Kubisch, Christian

AU - Oshima, Junko

PY - 2010

Y1 - 2010

N2 - Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutations, including two genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and two rare missense mutations. We also review evidence for founder mutations among various ethnic/geographic groups. Founder WRN mutations had been previously reported in Japan and Northern Sardinia. Our Registry now suggests characteristic mutations originated in Morocco, Turkey, The Netherlands and elsewhere.

AB - Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutations, including two genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and two rare missense mutations. We also review evidence for founder mutations among various ethnic/geographic groups. Founder WRN mutations had been previously reported in Japan and Northern Sardinia. Our Registry now suggests characteristic mutations originated in Morocco, Turkey, The Netherlands and elsewhere.

KW - Humans

KW - Male

KW - Female

KW - Mutation, Missense

KW - Founder Effect

KW - Mutation

KW - Chromosome Breakpoints

KW - Introns

KW - Exodeoxyribonucleases/genetics

KW - RecQ Helicases/genetics

KW - Werner Syndrome/genetics

KW - Humans

KW - Male

KW - Female

KW - Mutation, Missense

KW - Founder Effect

KW - Mutation

KW - Chromosome Breakpoints

KW - Introns

KW - Exodeoxyribonucleases/genetics

KW - RecQ Helicases/genetics

KW - Werner Syndrome/genetics

M3 - SCORING: Journal article

VL - 128

SP - 103

EP - 111

JO - HUM GENET

JF - HUM GENET

SN - 0340-6717

IS - 1

M1 - 1

ER -