Cerebellar and Pontocerebellar Hypoplasia

Gene: PI4KA

Green List (high evidence)

In addition to the family previously described, 8 unrelated patients with neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) were identified to have homozygous or compound heterozygous mutations in the PI4KA gene via WES/WGS by Verdura et al. 2021. No abnormalities were detected during pregnancy. 3 patients had brainstem and cerebellar hypoplasia/atrophy.

Functional testing supported a loss of function mechanism. No biallelic null variants were identified, leading the authors to suggest that complete null is incompatible with life.

Created: 4 Jan 2022, 7:12 a.m. | Last Modified: 4 Jan 2022, 7:12 a.m.

Panel Version: 1.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531

Publications

• 34415322

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Single family reported, aware of at least one other yet to be published family identified internally.
Sources: Expert list

Created: 27 Apr 2020, 11:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531

Publications

• 25855803