Werner Syndrome (WRN)
Werner syndrome is an autosomal recessive disorder caused by pathogenic variants in the gene WRN. Werner syndrome is characterized by rapid appearance of features associated with normal aging. Symptoms of Werner syndrome typically become apparent around puberty. Teenagers do not experience a growth spurt and as a result are typically short. In their 20s, individuals with this disorder begin to develop symptoms of aging including gray hair, hair loss, hoarse voice, and a prematurely aged face. Individuals may also develop cataracts, diabetes, diminished fertility, atherosclerosis, osteoporosis, and cancer. Life expectancy is typically reduced to the 50s. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.