Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

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Title
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
Author(s)
Emil Ylikallio; Doyoun Kim; Pirjo Isohanni; Mari Auranen; Eunjoon Kim; Tuula Lönnqvist; Henna Tyynismaa
Publication Date
2015-10
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS, v.23, no.10, pp.1427 - 1430
Publisher
NATURE PUBLISHING GROUP
Abstract
Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been described to cause variable neurological manifestations. Recessive missense variants have led to spastic paraplegia, and recessive truncations to sensory and autonomic neuropathy. De novo missense variants cause developmental delay or intellectual disability, cerebellar atrophy and variable spasticity. We describe a family with father-to-son transmission of de novo variant in the KIF1A motor domain, in a phenotype of pure spastic paraplegia. Structural modeling of the predicted p.(Ser69Leu) amino acid change suggested that it impairs the stable binding of ATP to the KIF1A protein. Our study reports the first dominantly inherited KIF1A variant and expands the spectrum of phenotypes caused by heterozygous KIF1A motor domain variants to include pure spastic paraplegia. We conclude that KIF1A should be considered a candidate gene for hereditary paraplegias regardless of inheritance pattern. © 2015 Macmillan Publishers Limited. All rights reserved
URI
https://pr.ibs.re.kr/handle/8788114/1863
ISSN
1018-4813
Appears in Collections:
Center for Synaptic Brain Dysfunctions(시냅스 뇌질환 연구단) > Journal Papers (저널논문)
Files in This Item:
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