Callosome

Gene: KIF5C

Green List (high evidence)

Eight individuals reported (four from the same family, mother mosaic). Phenotype comprises complex cortical malformations characterised by focal pachygyria affecting the frontal region. Thin/dysplastic CC reported in half. Secondary microcephaly and refractory epilepsy are part of the natural history (epilepsy reported in at least 50%). Affected individuals present with psychomotor delay, severe intellectual disability and absence of speech with autistic spectrum disorder, stereotypic hand movements and self-injurious behaviour. Motor impairment varies from hypotonia to spastic quadriplegia. Mutational hotspot at residue p.Glu237

Created: 29 Aug 2020, 2:36 a.m. | Last Modified: 29 Aug 2020, 2:36 a.m.

Panel Version: 0.198

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282

Publications

• 23603762
• 23033978
• 32562872