Processing-deficient progeroid laminopathy with ZMPSTE24 mutation

Processing-deficient progeroid laminopathy with ZMPSTE24 mutation refers to an ultrarare spectrum of premature aging disorders—such as mandibuloacral dysplasia type B and lethal restrictive dermopathy—caused by homozygous or compound heterozygous loss-of-function variants in the *ZMPSTE24* gene Affected pediatric patients experience widespread multiorgan degeneration characterized by severe growth failure, micrognathia, clavicular and acro-osteolysis, joint contractures, lipodystrophy, skin atro...

Processing-deficient progeroid laminopathy with ZMPSTE24 mutation refers to an ultrarare spectrum of premature aging disorders—such as mandibuloacral dysplasia type B and lethal restrictive dermopathy—caused by homozygous or compound heterozygous loss-of-function variants in the *ZMPSTE24* gene

This metalloproteinase deficiency disrupts the final proteolytic cleavage of prelamin A into mature lamin A, leading to the toxic accumulation of permanently farnesylated prelamin A within the inner nuclear membrane

This metalloproteinase deficiency disrupts the final proteolytic cleavage of prelamin A into mature lamin A, leading to the toxic accumulation of permanently farnesylated prelamin A within the inner nuclear membrane Affected pediatric patients experience widespread multiorgan degeneration characterized by severe growth failure, micrognathia, clavicular and acro-osteolysis, joint contractures, lipodystrophy, skin atrophy, and accelerated cardiovascular morbidity, driven by widespread structural n...

Affected pediatric patients experience widespread multiorgan degeneration characterized by severe growth failure, micrognathia, clavicular and acro-osteolysis, joint contractures, lipodystrophy, skin atrophy, and accelerated cardiovascular morbidity, driven by widespread structural nuclear envelope damage and premature cellular senescence