Article
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
Prenatal diagnosis - 1 Mar 2024
Favier Maud, Delanne Julian, Gorincour Guillaume, Faivre Laurence, Racine Caroline, Philippe Christophe, Duffourd Yannis, Vitobello Antonio, Rousseau Thierry, Martz Olivia, Tarris Georges, Oualiken Camélia, Thauvin-Robinet Christel, Mau-Them Frédéric Tran
Abstract excerpt
A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo-/akinesia, arthrogryposis,...
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