Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality
KAND phenotypes are not only limited to severe and early-onset phenotypes but also include adult-onset less severe ones. The localization of a missense <i>KIF1A</i> variant in the motor domain corresponds with a more severe disease, but not exclusively. Given the broad phenotypic spectrum associated with <i>KIF1A</i> variants, each variant should be individually evaluated for pathogenicity. Based on our findings, we propose a supporting algorithm outlining key considerations to support variant causality and the prediction of the associated phenotype.
Authors
- Alena Musilová
- Georg M. Stettner (ORCID: https://orcid.org/0000-0002-0906-8816)
- Anita M. Rauch (ORCID: https://orcid.org/0000-0003-2930-3163)
- Elea Galiart
- Vladana Skutilová
- Dagmar Grečmalová
- Anna Pecková
- Anna Uhrova Meszarosova
- Konstantinos Kolokotronis
- Katharina Steindl
- Alena Takacsova
- Benjamin Seidl
- Dana Safka Brozkova
- Eva Vlckova
- Petra Lassuthova
- Emilie Vyhnalkova
Institutions
- University of Zurich (CH)
- Charles University (CZ)
- Masaryk University (CZ)
- University Hospital Ostrava (CZ)
- University Hospital in Motol (CZ)
- University Hospital Brno (CZ)
- Institut thématique Génétique, génomique et bioinformatique (FR)
- Krajská Zdravotní (CZ)
- University Children's Hospital Zurich (CH)
- University Hospital Hradec Králové (CZ)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2026-01-08
- DOI
- https://doi.org/10.3389/fmed.2025.1704209
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 23.21
Funders
- Ministerstvo Zdravotnictví Ceské Republiky