Dataset Information

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.

SUBMITTER: Friedrich K

PROVIDER: S-EPMC4686336 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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

Friedrich Katrin K Lee Lin L Leistritz Dru F DF Nürnberg Gudrun G Saha Bidisha B Hisama Fuki M FM Eyman Daniel K DK Lessel Davor D Nürnberg Peter P Li Chumei C Garcia-F-Villalta María J MJ Kets Carolien M CM Schmidtke Joerg J Cruz Vítor Tedim VT Van den Akker Peter C PC Boak Joseph J Peter Dincy D Compoginis Goli G Cefle Kivanc K Ozturk Sukru S López Norberto N Wessel Theda T Poot Martin M Ippel P F PF Groff-Kellermann Birgit B Hoehn Holger H Martin George M GM Kubisch Christian C Oshima Junko J

Human genetics 20100505 1

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 t ...[more]

PMID: 20443122

Dataset Information

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

Publications

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

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