Brain Calcification

Gene: PDGFB

Green List (high evidence)

Additional cases are reported.
PMID 27433546 reports 3 patients (II:3, III:1 and III:3) from the same family having a PDGFB variant (c.26T>G (L9R)) who developed brain calcifications.
PMID 35747618 reports 3 patients (proband, proband's father and paternal grandmother) from the same family with a novel PDGFB variant (c.298C>T:p.Arg100Cys) who developed brain calcifications. Segregation study and in silico analysis suggest this variant to be pathogenic.
PMID 25211641 reports 2 patients (proband and his son) from the same family with a PDGFB variant (p. Arg149*) who exhibited brain calcification.
PMID 29955172 reports 6 affected patients with PDGFb variants, who were identified by screening patients with primary familial brain calcification.

Created: 23 Apr 2023, 6:27 a.m. | Last Modified: 23 Apr 2023, 6:27 a.m.

Panel Version: 1.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 5, MIM# 615483

Publications

• 27433546
• 35747618
• 25211641
• 29955172
• 31267306
• 28162874

Green List (high evidence)

Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some individuals are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive. Multiple families reported.

Created: 22 Dec 2020, 7:01 a.m. | Last Modified: 22 Dec 2020, 7:05 a.m.

Panel Version: 0.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 5 , MIM#615483

Publications

• 23913003
• 30952898
• 30609140