Lissencephaly and Band Heterotopia

Gene: GMPPB

I don't know

Most reports of GMPPB do not report brain MRI findings. When reported, the most common finding is cerebellar hypoplasia. There are 2 unrelated individuals with polymicrogyria, but this does not appear to be a common finding.

PMID: 23768512 – 8 individuals with muscular dystrophy-related phenotypes of which 3 had cerebellar +/- pontine hypoplasia rather than a malformation of cortical development.

PMID: 30257713 – 13 individuals from 12 families with GMPPB-related dystroglycanopathies of which 3 had mild cerebellar hypoplasia, 2 had white matter changes, 4 had microcephaly, 1 had polymicrogyria, 1 had cortical hypoplasia.

PMID: 26310427 – 9 unrelated individuals of which 5 had MRI brain, with 3 normal studies,1 showing ventriculomegaly, prominent cortical sulci, cerebellar hypoplasia, and 1 showing ventriculomegaly, hypomyelination, cerebellar hypoplasia

PMID: 24780531 – 2 siblings of which 1 had hypoplasia of the cerebellar vermis, pons, medulla, as well as mild polymicrogyria

Created: 19 May 2020, 7:10 a.m. | Last Modified: 19 May 2020, 7:10 a.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)

Publications

• PMID: 23768512
• 30257713
• 26310427
• 24780531