SNP Shot: Genomic Insights

Werner syndrome is a condition where people age prematurely and at an accelerated rate. Individuals with this condition typically experience normal growth and development until puberty. However, affected teens usually don't experience a typical growth spurt, leading to short height. The typical signs of premature aging in Werner syndrome usually begin in their twenties and can include graying or loss of hair, a raspy voice, and thin, tough skin. Some individuals may also have distinctive "bird-like" facial features. Many people with Werner syndrome also have slender limbs and a stocky torso due to unusual fat distribution.

As Werner syndrome progresses, individuals can develop age-related health problems much earlier than usual, such as cataracts in both eyes, skin ulcers, type 2 diabetes, reduced ability to have children, severe hardening of the arteries (atherosclerosis), weakened bones (osteoporosis), and certain cancers. Affected individuals are prone to developing multiple, uncommon cancers during their lives. The lifespan of people with Werner syndrome is typically shortened, with most living into their late forties or early fifties. Cancer and atherosclerosis are the most frequent causes of death.

Inheritance:

Werner syndrome follows an autosomal recessive inheritance pattern. This means that a mutation must be present in both copies of the WRN gene within each cell for the condition to manifest. Both parents of a child with Werner syndrome carry one copy of the altered gene, but generally do not display any symptoms of the disorder themselves.