Diagnosis of Werner syndrome by immunoblot analysi...[Clin Exp Dermatol. 2002]

SearchDatabase nameforSearch term

Advanced Search

Display Show

All: 1

Review: 0

Click to change filter selection through MyNCBI.

1: Clin Exp Dermatol. 2002 Mar;27(2):157-9. Links

Diagnosis of Werner syndrome by immunoblot analysis.

Shimizu T, Tateishi Y, Furuichi Y, Sugimoto M, Kawabe T, Matsumoto T, Shimizu H.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo 060-8638, Japan. michiki@med.hokudai.ac.jp

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.

PMID: 11952711 [PubMed - indexed for MEDLINE]

Werner syndrome and mutations of the WRN and LMNA genes in France. [Hum Mutat. 2006]
Genetic analyses of two cases of Werner's syndrome. [Eur J Dermatol. 2004]
Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products. [Hum Genet. 1999]
ReviewWRN mutations in Werner syndrome. [Hum Mutat. 1999]
ReviewThe clinical characteristics of Werner syndrome: molecular and biochemical diagnosis. [Hum Genet. 2008]

Recent Activity

Clear Turn Off

Display Show

Diagnosis of Werner syndrome by immunoblot analysis.

Related Articles

Recent Activity