title: Homozygous and compound heterozygous mutations at the Werner syndrome locus.
abstract: The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation results in a 4 bp deletion at the beginning of an exon. Nine new WRN mutations in 10 additional WS patients, both Japanese and Caucasian, are described. These include three compound heterozygotes (one Japanese and two Caucasian). The new mutations are located all across the coding region.
authors.affiliation: Department of Pathology, University of Washington, Seattle 98195, USA.
authors.forename: J
authors.initials: J
authors.lastname: Oshima
authors.forename: C E
authors.initials: CE
authors.lastname: Yu
authors.forename: C
authors.initials: C
authors.lastname: Piussan
authors.forename: G
authors.initials: G
authors.lastname: Klein
authors.forename: J
authors.initials: J
authors.lastname: Jabkowski
authors.forename: S
authors.initials: S
authors.lastname: Balci
authors.forename: T
authors.initials: T
authors.lastname: Miki
authors.forename: J
authors.initials: J
authors.lastname: Nakura
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
authors.forename: J
authors.initials: J
authors.lastname: Ells
authors.forename: M
authors.initials: M
authors.lastname: Smith
authors.forename: M I
authors.initials: MI
authors.lastname: Melaragno
authors.forename: M
authors.initials: M
authors.lastname: Fraccaro
authors.forename: S
authors.initials: S
authors.lastname: Scappaticci
authors.forename: J
authors.initials: J
authors.lastname: Matthews
authors.forename: S
authors.initials: S
authors.lastname: Ouais
authors.forename: A
authors.initials: A
authors.lastname: Jarzebowicz
authors.forename: G D
authors.initials: GD
authors.lastname: Schellenberg
authors.forename: G M
authors.initials: GM
authors.lastname: Martin
mesh_terms: D044466:Asian People; D004265:DNA Helicases / Q000235:genetics*; D005090:Exodeoxyribonucleases; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D053484:RecQ Helicases; D014898:Werner Syndrome / Q000235:genetics*; D000071657:Werner Syndrome Helicase; D044465:White People
chemical_list: D005090:Exodeoxyribonucleases; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase