Maud Favier, Julian Delanne, Guillaume Gorincour, Laurence Faivre, Caroline Racine, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Thierry Rousseau, Olivia Martz, Georges Tarris, Camélia Oualiken, Christel Thauvin-Robinet, Frédéric Tran Mau-Them
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, contractures and limb deformities, hydrops fetalis and cystic hygroma. An additional truncating variant was identified in CSPP1 associated with Joubert syndrome...
February 11, 2024: Prenatal Diagnosis