WERNER SYNDROME

WRN GENE ANALYSIS

Werner Syndrome is an adult onset progeroid disease. The earliest sign is the lack of a growth spurt during puberty in adolescence. Onset of a prematurely aged appearance (loss and graying of hair, scleroderma-like skin changes and short stature) typically starts in the 20–30’s, followed by the appearance of age-related disorders (bilateral cataracts, diabetes mellitus, atherosclerosis, osteoporosis, cancers and myocardial infarction). The characteristics of an adult age of onset and bilateral cataracts are considered pathognomonic for Werner Syndrome. The average documented lifespan of Werner Syndrome patients in 2006 was 54 years.

Werner Syndrome is an autosomal recessive disorder caused by homozygous loss of function variants in the WRN gene (Yu et al 1996 Science 272, 258-262). DNA sequence analysis of the WRN gene identifies pathogenic JAK2 Exon 12 variants in 90% of cases.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.