Polymicrogyria and Schizencephaly

Gene: FIG4

I don't know

PMID 18758830 – Ben Cheikh et al (2009) studied a large consanguineous Moroccan family in which bilateral occipital polymicrogyria segregated as an autosomal recessive trait, establishing linkage to 6q16-q22 by homozygosity mapping. Three affected individuals had epilepsy and polymicrogyria (other siblings had variable phenotypes).

PMID 24598713 – Baulac et al (2014) analysed the consanguineous Moroccan family and detected a homozygous missense variant in FIG4, which was homozygous in each of the affected siblings with polymicrogyria, heterozygous in one healthy sibling, not present in three healthy siblings, heterozygous in both parents and not tested in a further four siblings. They went on to study transfected fibroblasts from FIG4 deficient mice and examined histologically brains from FIG4-null mice which had findings that included changes “reminiscent of human cortical malformations”.

- Homozygous variants in FIG4 have also been reported in Charcot-Marie-Tooth subtype 4J (32022442), leukoencephalopathy (30740813), Yunis-Varon syndrome (23623387)
- Heterozygous variants in FIG4 have been reported in association with Parkinsonism (32268254), amyotrophic lateral sclerosis (28051077)

In the case of cortical malformations, there is only one family described with one supporting mouse model.

Created: 28 Apr 2020, 7:09 a.m. | Last Modified: 28 Apr 2020, 7:09 a.m.

Panel Version: 0.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
? Polymicrogyria with epilepsy MIM# 612691

Publications

• PMID: 18758830
• 24598713