Back issues No.3 - 2002 / Case Report  

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Werner's Syndrome—A Case Report and Mutation Analysis—
Guan-Yu Chen Hamm-Ming Sheu
Dermatol Sinica 20: 186-191, 2002

Werner's syndrome is an autosomal recessive disorder causing premature aging and cancers. A 33-year-old male suffered from unhealing wound on right foot for 2 years. He looked older than his age, with short stature, light body weight, thin hair, balding of beard, high-pitched voice, bird-like face, atrophy of the subcutaneous fat tissue, calluses on the sole, toe nails dystrophy, cataract, diabetes mellitus, and hypogonadism. Linkage analysis revealed that the WS gene (WRN) was localized to the short arm of chromosome 8 (8p11-21) and was cloned in 1996. Mutational analysis of the proband showed a novel homozygous mutation of C-to-T transition at nucleotide IVS 25+6 within the intron 25. The mother and brother showed heterozygous of C-to-T transition in the same position. The estimated prevalence was 1:300000 for the Japanese. The incidence of neoplasia has been associated with an excess of non-epithelial malignant tumors , especially sarcomas. Clinicians must keep in mind their high risk for cancers.

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