A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.

ABSTRACT: Motor proteins, encoded by Kinesin superfamily (KIF) genes, are critical for brain development and plasticity. Increasing studies reported KIF's roles in neurodevelopmental disorders. Here, a 6 years and 3 months-old Chinese boy with markedly symptomatic epilepsy, intellectual disability, brain atrophy, and psychomotor retardation was investigated. His parents and younger sister were phenotypically normal and had no disease-related family history. Whole exome sequencing identified a novel heterozygous in-frame deletion (c.265_267delTCA) in exon 3 of the KIF5C in the proband, resulting in the removal of evolutionarily highly conserved p.Ser90, located in its ATP-binding domain. Sanger sequencing excluded the proband's parents and family members from harboring thi

SUBMITTER: Banerjee S 

PROVIDER: S-EPMC10960728 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature