Genetic analyses of two cases of Werner's syndrome.
We report two cases of Werner's syndrome (WS). First, a 42-year-old Japanese man was referred on suspicion of systemic sclerosis (SSc) because of scleroderma-like skin atrophy and foot ulcers. Second, a 51-year-old woman with malignant fibrous histiocytoma was referred on suspicion of premature aging syndrome. Because both patients had many typical manifestations compatible with WS, we made a clinical diagnosis of WS. Genetic analyses revealed a homozygous mutation, an A deletion at nucleotide 3677 of WS gene (WRN) in the first case and a homozygous mutation, a G to C substitution at one base upstream of exon 26 of WRN in the second case. Both mutations were consistent with those previously reported in Japanese WS patients.
Sogabe
Yoko
Y
Department of Dermatology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511, Japan. ysogabe@showa.gunma-u.ac.jp
Yasuda
Masahito
M
Yokoyama
Yoko
Y
Tamura
Atsushi
A
Negishi
Izumi
I
Ohnishi
Kazunori
K
Shinozaki
Tetsuya
T
Ishikawa
Osamu
O
D000328:Adult; D004265:DNA Helicases / Q000235:genetics*; D017931:DNA Primers; D003937:Diagnosis, Differential; D005090:Exodeoxyribonucleases; D005260:Female; D016523:Foot Ulcer; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D053484:RecQ Helicases; D012883:Skin Ulcer; D014898:Werner Syndrome / Q000175:diagnosis* / Q000235:genetics*; D000071657:Werner Syndrome Helicase
D017931:DNA Primers; D005090:Exodeoxyribonucleases; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase