Journal article
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
H Guo, Q Zhang, R Dai, B Yu, K Hoekzema, J Tan, S Tan, X Jia, WK Chung, R Hernan, FS Alkuraya, A Alsulaiman, MA Al-Muhaizea, G Lesca, L Pons, A Labalme, L Laux, E Bryant, NJ Brown, E Savva Show all
American Journal of Human Genetics | CELL PRESS | Published : 2020
Abstract
NCKAP1/NAP1 regulates neuronal cytoskeletal dynamics and is essential for neuronal differentiation in the developing brain. Deleterious variants in NCKAP1 have been identified in individuals with autism spectrum disorder (ASD) and intellectual disability; however, its clinical significance remains unclear. To determine its significance, we assemble genotype and phenotype data for 21 affected individuals from 20 unrelated families with predicted deleterious variants in NCKAP1. This includes 16 individuals with de novo (n = 8), transmitted (n = 6), or inheritance unknown (n = 2) truncating variants, two individuals with structural variants, and three with potentially disruptive de novo missens..
View full abstractGrants
Awarded by National Institutes of Health
Funding Acknowledgements
We are grateful to the families involved in this study. We thank Tonia Brown for assistance in editing this manuscript. We thank Mais Hashem, Egidio Spinelli, and John J. Millichap for coordinating data collection. Thisworkwas supported by the following grants: theNational Natural Science Foundation of China (81871079, 81330027, 81525007, 8173000779, 81671122) to H.G., K.X., and Z.H.; The US National Institutes of Health (NIH) grant (MH101221) to E.E.E.; and the Hunan Provincial grants (2018SK1030, 2018DK2016, 2019SK1015, 2019RS2005) to K.X., Z.H., and H.G. H.G. was also supported by the Innovation-Driven Project of Central South University (2020CX042). N.J.B., E.S., S.A., and D.E. was supported by the State Government of Victoria (Department of Health and Human Services, Melbourne Genomics Health Alliance). J.M.M. and F.S. are supported by the Swiss National Science Foundation (310030_185292). W.K.C. is supported by grants from the Simons Foundation and the JPB Foundation. E.E.E. is an investigator of the Howard Hughes Medical Institute.