Journal article

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Yang Yue, Carolyn Ellaway, Nicola Brunetti-Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Annalaura Torella, Tony Roscioli, Mark J Cowley, Sean Massey, Rhea Sonawane, Matthew D Burton, Bitten Schonewolf-Greulich, Zeynep Tumer Show all

HUMAN MUTATION | WILEY | Published : 2020


Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of synaptic cargo, are well-recognized to cause a spectrum of neurological conditions, commonly known as KIF1A-associated neurological disorders (KAND). Here, we report one mutation-negative female with classic Rett syndrome (RTT) harboring a de novo heterozygous novel variant [NP_001230937.1:p.(Asp248Glu)] in the highly conserved motor domain of KIF1A. In addition, three individuals with severe neurodevelopmental disorder along with clinical features overlapping with KAND are also reported carrying de novo heterozygous novel [NP_001230937.1:p.(Cys92Arg) and p.(Pro3..

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Awarded by United States' National Institutes of Health (NIH)

Awarded by Graduate Research Fellowship from the National Science Foundation

Awarded by NIH

Funding Acknowledgements

We thank all the family members for taking part in this study. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. S. K. was the recipient of the Research Training Program scholarship. Work in the laboratory of K. J. V. was supported by grants (R01GM070862 and R35GM131744) from the United States' National Institutes of Health (NIH). B. B. was supported by a Graduate Research Fellowship from the National Science Foundation under Grant No. DGE 1256260, the Rackham Pre-doctoral Fellowship, and the Endowment for the Development of Graduate Education Student Fellowship. The research work performed in W. K. C.'s lab was supported by and Grant R01NS114636 from NIH. L. B. was supported by the Grant TL1TR001875.