Syndrome-causing mutations in Werner syndrome.
Complete loss of function in the WRN: RecQ3 DNA/RNA helicase gene causes Werner Syndrome (WS). WS patients with genetic instability manifest an early onset of age-related diseases including diabetes mellitus (DM), osteoporosis, atherosclerosis, and malignancy as well as early death. In 1,420 patients, WS was reported to be associated with chromosomal abnormality syndrome and other genetic diseases including Klinefelter syndrome in 2 patients, retinitis pigmentosa in 3, Wilson's disease in 1, xeroderma pigmentosum in 3, and porokeratosis Mibelli in 1. These clinical findings may support the concept of genetic instability in WS.
Goto
Makoto
M
Division of Anti-Ageing and Longevity Sciences, Department of Clinical Engineering, Faculty of BioMedical Engineering, Toin University of Yokohama, 1614 Kurogane-Cho, Aoba-ku, Yokohama, Japan. goto@cc.toin.ac.jp
D005090:Exodeoxyribonucleases / Q000235:genetics; D006801:Humans; D009154:Mutation; D053484:RecQ Helicases / Q000235:genetics; D014898:Werner Syndrome / Q000235:genetics*; D000071657:Werner Syndrome Helicase; D014983:Xeroderma Pigmentosum / Q000235:genetics
D005090:Exodeoxyribonucleases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase