High prevalence of Werner's syndrome in Sardinia. Description of six patients and estimate of the gene frequency

D. Cerimele, F. Cottoni, S. Scappaticci, G. Rabbiosi, G. Borroni, E. Sanna, G. Zei, M. Fraccaro

Research output: Contribution to journalArticlepeer-review

Abstract

Several patients with Werner's syndrome in a large family group in Sardinia were ascertained three years ago and reported briefly by Rabbiosi and Borroni (1979). Since then two sisters from a second family and a single case from a third family were ascertained. The three families originated from the Northern part of Sardinia and no connection between them was found. We provide a detailed clinical description of six of these patients and attempt to estimate the prevalence and the gene frequency of Werner's syndrome in Sardinia. The prevalence was calculated as 1:94,914 for the two districts of Sassari and Nuoro and as 1:202,766 for the whole island. This is the highest prevalence thus far ascertained. Using Dahlberg's formula we obtained an estimate of the gene frequency q=0.003288 and thus a frequency of Werner's syndrome of 1:92,515. A more rigorous estimate gave a gene frequency q=0.001483 and thus a frequency of Werner's syndrome of 1:454,505, but because of the small sample size this estimate should be taken with caution.

Original languageEnglish
Pages (from-to)25-30
Number of pages6
JournalHuman Genetics
Volume62
Issue number1
DOIs
Publication statusPublished - Nov 1982

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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