title: Diagnosis of Werner syndrome by immunoblot analysis.
abstract: Werner syndrome (WS) is caused by mutations in the gene encoding RecQ type DNA helicase (WRN). We report a 53-year-old Japanese male with WS who initially presented with skin ulcers on the feet and the left elbow. The patient had a high-pitched voice, hoarseness, a characteristic bird-like facial appearance with a beak-shaped nose, canities and juvenile cataracts. Immunoblot analysis using a monoclonal antibody directed against the WS gene product DNA helicase revealed that the patient's leucocytes lacked this particular molecule, confirming the diagnosis of WS. This new immunoblot system therefore enables the diagnosis of WS to be made without the need to undertake more complex mutational analysis.
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo 060-8638, Japan. michiki@med.hokudai.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Shimizu
authors.forename: Y
authors.initials: Y
authors.lastname: Tateishi
authors.forename: Y
authors.initials: Y
authors.lastname: Furuichi
authors.forename: M
authors.initials: M
authors.lastname: Sugimoto
authors.forename: T
authors.initials: T
authors.lastname: Kawabe
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D004265:DNA Helicases / Q000378:metabolism*; D005090:Exodeoxyribonucleases; D005260:Female; D006801:Humans; D015151:Immunoblotting / Q000379:methods*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D053484:RecQ Helicases; D012883:Skin Ulcer / Q000209:etiology*; D014898:Werner Syndrome / Q000175:diagnosis*; D000071657:Werner Syndrome Helicase
chemical_list: D005090:Exodeoxyribonucleases; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase