A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant

Spastic paraplegia (SPG)10 is an autosomal dominant SPG caused by kinesin family member 5A ( KIF5A ) gene variants. We describe a Japanese patient with SPG whose deceased mother and maternal uncle also exhibited SPG. Exome analysis identified a rare KIF5A nonsense variant (NM_004984.4:c.2590C>T (...

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Published inHuman genome variation Vol. 12; no. 1; pp. 11 - 3
Main Authors Miura, Shiroh, Suenaga, Seria, Goto, Hana, Wang, Zhaonan, Makino, Akane, Fan, Luoming, Senzaki, Kensuke, Ochi, Masayuki, Ohyagi, Yasumasa, Shibata, Hiroki
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 02.06.2025
Springer Nature B.V
Nature Publishing Group
Subjects
692/699/375/364
692/699/375/365/1917
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Genomes
Genomics
Hereditary spastic paraplegia
Human Genetics
Kinesin
Molecular Medicine
Paralysis
Proteins
Spasticity
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Summary:Spastic paraplegia (SPG)10 is an autosomal dominant SPG caused by kinesin family member 5A ( KIF5A ) gene variants. We describe a Japanese patient with SPG whose deceased mother and maternal uncle also exhibited SPG. Exome analysis identified a rare KIF5A nonsense variant (NM_004984.4:c.2590C>T (p.Arg864Ter)) in the patient, regarded as pathogenic. As KIF5A mRNA expression was significantly decreased compared with that of a healthy control, the variant was deemed causative of SPG.
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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-025-00313-3