Article
Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.
American journal of medical genetics. Part A - 1 Mar 2026
Civit A, Kerbellec L, Laurenceau D, Ung D C, Moizard M P, Ronce N, Gueguen P, Laumonnier F, Bréhin A C, Marguet F, Laquerrière A, Bergemer Fouquet A M, Cirier J, Blesson S, Arpin S, Jeanne M, Vuillaume M L
Abstract excerpt
Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased incidence of prenatal fractures. To date, only truncating variants, loss of...
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