CONGENITAL MUSCULAR DYSTROPHIES: P.203 Recessive variants in COL25A1 are responsible for arthrogryposis multiplex congenita with an ocular congenital cranial dysinnervation disorder

Abstract

Arthrogryposis multiplex congenita (AMC) is an extremely heterogeneous congenital disorder characterized by reduced fetal mobility and multiple congenital contractures at birth, occurring in 1/300-1/5000 newborns. AMC have various etiologies, including environmental and genetic causes such as neurological and neuromuscular disorders. Genetic diagnosis of AMC remains challenging. Here we present two unrelated patients from UK (pt 1) and USA (pt 2) with AMC due to recessive COL25A1 gene variants, a known cause of ocular congenital cranial dysinnervation disorder (CCDDs).