Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Ruth J FalbAmelie J MüllerWolfram KleinMona GrimmelUte GrasshoffStephanie SprangerPetra StöbeDarja GauckAlma KuechlerNicola DikowEva M C SchwaiboldChristoph SchmidtLuisa AverdunkRebecca BuchertTilman HeinrichNatalia ProdanJoohyun ParkMartin KehrerMarc SturmOlga KelemenSilke HartmannDenise HornDirk EmmerichNina HirtArmin NeumannGlen KristiansenUlrich GembruchSusanne HaenReiner SiebertSabine HentzeMarkus HoopmannStephan OssowskiStephan WaldmüllerStefanie Beck-WödlDieter GläserIsmail TekesinFelix DistelmaierOlaf RiessKarl-Oliver KaganAndreas DufkeTobias B HaackPublished in: Journal of medical genetics (2021)
Our study underlines the broad locus heterogeneity of FA with well-established and atypical genotype-phenotype associations. We describe KIF21A as a new factor implicated in the pathogenesis of severe neurogenic FA sequence with arthrogryposis of multiple joints, pulmonary hypoplasia and facial dysmorphisms. This hypothesis is further corroborated by a recent report on overlapping phenotypes observed in Kif21a null piglets.