Polymicrogyria and Schizencephaly

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. PMG reported in at least one individual. Secondary microcephaly and refractory epilepsy are part of the natural history. 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, 2:28 a.m. | Last Modified: 29 Aug 2020, 2:28 a.m.

Panel Version: 0.139

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

• 23603762
• 23033978
• 32562872