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GENATLAS PHENOTYPE

last update : 03-02-2022

Symbol	PMGAD
Location	16q24
Name	polymicrogyria with axon guidance defects
Other name(s)	Cortical dysplasia, complex, with other brain malformations 1
Corresponding gene	TUBB3
Other symbol(s)	CDCBM1
Main clinical features	delayed acquisition of developmental milestones or mental retardation at school age, with axial hypotonia, spastic diplegia or tetraplegia, intermittent to permanent strabismus combined with either multidirectional or horizontal nystagmus at the MRI, a common complex cortical dysgenesis that combined frontally predominant microgyria or gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia with fusion between putamen and caudate nucleus, with hypoplastic corpus callosum
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Remark(s)

. mutations leading to impairment of tubulin heterodimerization processes

Genotype/Phenotype correlations

de novo heterozygous p.T178M and p.M388V mutations are associated with phenotypes which are more severe than the one associated with the homozygote p.A302V mutation (PMID:20829227))