Genotype-phenotype correlations in 18 European patients with heterozygous <i>KIF1A</i> variants: key considerations for assessing <i>KIF1A</i> variant causality.

ABSTRACT:

Background

Variants in the KIF1A have been associated with a wide range of phenotypes. Most variants are found in the protein's motor domain. The clinical phenotype of KIF1A-associated disorders (KAND) correlates with the position and the type of variant. Missense variants in the motor domain are predominantly associated with severe phenotypes and often occur de novo.

Methods

Patients from the Czech Republic and Switzerland were identified during DNA diagnostics for neuromuscular or neurodevelopmental disorders. Clinical and genetic data were analyzed retrospectively.

Results

A total of 18 patients with heterozygous KIF1A variants were reported. The clinical spectrum ranges from a very severe congenital phenotype to mild spastic paraplegia

SUBMITTER: Uhrova Meszarosova A 

PROVIDER: S-EPMC12823886 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature