HOMOZYGOUS AND COMPOUND HETEROZYGOUS MUTATIONS AT THE WERNER SYNDROMELOCUS

The Werner syndrome (WS) is a rare autosomal recessive progeroid disor der, The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family, Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees, The latter mu tation was originally described as a 4 bp deletion spanning a spliced junction, It is now shown that this mutation results in a 4 bp deletio n at the beginning of an exon, Nine new WRN mutations in 10 additional WS patients, both Japanese and Caucasian, are described, These includ e three compound heterozygotes (one Japanese and two Caucasian), The n ew mutations are located all across the coding region.