Mutation introduces a splice site that results in the protein being abnormally farnesylated → there is a new treatment that prevents the farnesylation and can increase the lifespan of these patients
Lamin A protein contributes to the structure/function of the nuclear envelope
Localized sclerodermatous changes of lower trunk/thigh & dyspigmentation
Premature aging
Markedly premature aging (median lifespan 12 years), large appearing
“Plucked bird” appearance, loss of subcutaneous tissue, sclerodermoid
Skin: alopecia, high pitched voice, average intelligence, severe premature
Coronary atherosclerosis
Overtime, patiens show signs of premature aging
Early skin wrinkling and xerosis
Hair loss (scalp, eyebrows, eyelashes)
Skin atrophy with prominent veins
Atherosclerosis and angina
Bone density loss/osteoporosis (with susceptibility to fractures), coxa valga and osteolysis of distl phalanges)
Rapid and progressive features of premature aging develop - complications include crebrovascular and cardiovascular events (CHF and MI), limited mobility and exercise tolerance, and poor growth
Complications of cardiovascular disease are the most common cause of mortality (mean age of death = 13 years)
Made with Bullet