Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Gianina RavenscroftJoshua S ClaytonFathimath FaizPadma SivadoraiDi MilnesRob CincottaPhillip MoonBen KamienMatthew EdwardsMartin DelatyckiPhillipa J LamontSophelia Hs ChanAlison ColleyAlan MaFelicity CollinsLucinda HenningtonTeresa ZhaoGeorge McGillivraySondhya GhediaKatherine ChaoAnne O'Donnell-LuriaNigel G LaingMark R DavisPublished in: Journal of medical genetics (2020)
Comprehensive gene panels give a diagnosis for a substantial proportion (42%) of fetal akinesia and arthrogryposis cases, even in an unselected cohort. Recently identified genes account for a relatively large proportion, 32%, of the diagnoses. Diagnostic-research collaboration was critical to the diagnosis and variant interpretation in many cases, facilitated genotype-phenotype expansions and reclassified VUS through functional genomics.