Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy

Eur J Med Genet. 2022 Sep 16:104622. doi: 10.1016/j.ejmg.2022.104622. Online ahead of print.ABSTRACTKIF5C encodes a protein belonging to the kinesin family and involved in cellular transport. Variants in KIF5C were first associated a decade ago with microcephaly and malformations of cortical development, with a phenotypic spectrum ranging from polymicrogyria to pachygyria. Currently, eight patients have been reported so far. Here we describe a new paediatric patient carrying the recurrent p.(Glu237Lys) KIF5C variant associated with a distinctive neuroradiological pattern of abnormal posterior course of the corticospinal tract at the level of the pons with a thickened anterior component of the transverse pontine fibers. This finding is likely related to altered axonal guidance and requires further evidence in other patients with KIF5C-related disorder.PMID:36122673 | DOI:10.1016/j.ejmg.2022.104622
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research