Brain Calcification

Gene: PDGFRB

Additional cases are found.
PMID 29955172 reports 3 unrelated cases carrying 3 novel missense PDGFRB variants, which are predicted to be damaging. The cases were identified by screening patients with primary familial brain calcification.
PMID 23255827 reports an unknown variant located within the PDGFRB found in 13 affected individuals in a big French family. Co-segregation of brain calcification and PDGFRB variant is also reported. The study suggests the PDGFRB gene is a new cause of brain calcification.

Created: 23 Apr 2023, 7:26 a.m. | Last Modified: 23 Apr 2023, 7:26 a.m.

Panel Version: 1.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 4, MIM# 615007

Publications

• 29955172
• 23255827

Green List (high evidence)

Additional variants in support of an already green gene: Genetic analysis of patients reported with primary familial brain calcification (PFBC) and their families by Lenglez et al (2022) identified 13 heterozygous missense variants in PDGFRB gene. These include two novel variants that were not reported before. In addition, authors combined clinical, genetic and molecular analysis data and reported nine variants as (likely) pathogenic, three as (likely) benign and one as a variant of unknown significance.

Created: 16 Nov 2022, 7:26 a.m. | Last Modified: 16 Nov 2022, 7:26 a.m.

Panel Version: 1.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 4, MIM# 615007, MONDO:0014004

Publications

• 34494111

Green List (high evidence)

Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. More than 10 families reported. Note variants in this gene are also associated with other disorders.

Created: 22 Dec 2020, 7:10 a.m. | Last Modified: 22 Dec 2020, 7:10 a.m.

Panel Version: 0.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 4, MIM# 615007

Publications

• 31004414
• 30979360
• 32613555