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 (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.
Authors
- Masayuki Ochi (ORCID: https://orcid.org/0000-0002-1120-3132)
- Hiroki Shibata (ORCID: https://orcid.org/0000-0001-7623-7969)
- Yasumasa Ohyagi (ORCID: https://orcid.org/0000-0001-5720-3368)
- Luoming Fan
- Zhaonan Wang (ORCID: https://orcid.org/0000-0002-2613-9727)
- Kensuke Senzaki
- Shiroh Miura (ORCID: https://orcid.org/0000-0003-2409-8404)
- Hironobu Goto (ORCID: https://orcid.org/0000-0002-4337-5529)
- Atsushi Makino (ORCID: https://orcid.org/0000-0003-2045-4889)
- Shigeaki Suenaga
Institutions
- Kyushu University (JP)
- Ehime University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-06-02
- DOI
- https://doi.org/10.1038/s41439-025-00313-3
- Primary Topic
- Microtubule and mitosis dynamics
- Type
- article
- Field-Weighted Citation Impact
- 0.00