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Diagnosis of Werner syndrome by immunoblot analysis
Author(s) -
Shimizu T.,
Tateishi Y.,
Furuichi Y.,
Sugimoto M.,
Kawabe T.,
Matsumoto T.,
Shimizu H.
Publication year - 2002
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1046/j.1365-2230.2002.00996.x
Subject(s) - recq helicase , helicase , cataracts , gene , nose , medicine , dna , gene product , genetics , biology , anatomy , gene expression , rna
Summary 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.