Article
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Human mutation - 1 Oct 2020
Kaur Simranpreet, Van Bergen Nicole J, Verhey Kristen J, Nowell Cameron J, Budaitis Breane, Yue Yang, Ellaway Carolyn, Brunetti-Pierri Nicola, Cappuccio Gerarda, Bruno Irene, Boyle Lia, Nigro Vincenzo, Torella Annalaura, Roscioli Tony, Cowley Mark J, Massey Sean, Sonawane Rhea, Burton Matthew D, Schonewolf-Greulich Bitten, Tümer Zeynep, Chung Wendy K, Gold Wendy A, Christodoulou John
Abstract excerpt
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...
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