Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Conclusion
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.

Source: Journal of Medical Genetics - December 23, 2022 Category: Genetics & Stem Cells Authors: Falb, R. J., Müller, A. J., Klein, W., Grimmel, M., Grasshoff, U., Spranger, S., Stöbe, P., Gauck, D., Kuechler, A., Dikow, N., Schwaibold, E. M. C., Schmidt, C., Averdunk, L., Buchert, R., Heinrich, T., Prodan, N., Park, J., Kehrer, M., S Tags: Open access Novel disease loci Source Type: research