Cerebellar and Pontocerebellar Hypoplasia

Gene: VLDLR

Green List (high evidence)

VLDLR guides neuroblast migration in the cerebral cortex and cerebellum (PMID: 16080122).

PMID: 16080122 - Whole gene homozygous deletion affecting 8 patients in 3 related Hutterite families. The deletion extended in neighbouring LOC401491 (no known function)
Patients displayed symptoms including delayed ambulation, truncal ataxia, strabismus and pes planus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging (MRI) demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.

PMID: 18326629 - Two families with homozygous PTCs. Patients had impaired cerebrocerebellar function including cerebrocerebellar hypoplasia, vermial hypoplasia, and gait.

PMID: 10380922 - Mouse models are neurologically normal. Knockout mice show malformation of neuronal layers, Purkinje cell assemble incorrectly, there are inverted cortical layers

Summary: 3 independant families + animal studies

Created: 4 May 2020, 2:32 a.m. | Last Modified: 4 May 2020, 2:32 a.m.

Panel Version: 0.139

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050

Publications

• 16080122
• 18326629
• 10380922