Polymicrogyria and Schizencephaly

Gene: GRIN2B

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 6, MIM# 613970

Green List (high evidence)

PMID: 28377535 - Neuroimaging was performed in 44 of 58 patients: six unrelated patients (6/44, 14%) showed a consistent MCD intermediate between typical polymicrogyria (PMG) and the cortical appearance of tubulinopathies, consisting of mixed large and small gyri separated by shallow sulci, a smooth grey-white border and little infolding. These patients also had hypoplastic corpus callosum of varying degrees, enlarged and mildly dysplastic basal ganglia, hippocampal dysplasia with thick leaves and open hilus as well as enlarged tecta. One patient had no septum pellucidum. Generalised cerebral volume loss, compatible with cerebral atrophy, was described in four additional patients (4/44; 9%).

Created: 21 May 2020, 1:52 a.m. | Last Modified: 21 May 2020, 1:52 a.m.

Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
GRIN2B-related neurodevelopmental disorder

Publications

• PMID: 28377535