Brain Calcification

Gene: XPR1

Green List (high evidence)

Additional cases are found.
PMID 27230854 reports a patient with a novel c.260T > C, p.(Leu87Pro) XPR1 variant who was diagnosed with primary familial brain calcification (PFBC).
PMID 29955172: Of 177 unrelated patients with brain calcifications, six carried XPR1 variants (4 pathogenic/likely pathogenic and 1 VUS).
It is worth noticing that PMID 33433330 reports a patient with compound heterozygous XPR1 variants (c.786_789delTAGA, p.D262Efs*6 and c.1342C>T, p.R448W), which were inherited from his unaffected parents, respectively. The authors state this is the first report of a PFBC patient who carries biallelic XPR1 variants.

Created: 9 May 2023, 5:50 a.m. | Last Modified: 9 May 2023, 5:50 a.m.

Panel Version: 1.83

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 6, MIM# 616413

Publications

• 27230854
• 29955172
• 33433330

Green List (high evidence)

Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterised by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions. At least 5 unrelated families reported.

Created: 23 Sep 2020, 1:40 a.m. | Last Modified: 23 Sep 2020, 1:40 a.m.

Panel Version: 0.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 6, MIM# 616413

Publications

• 25938945