Brain Calcification

Gene: CTC1

Green List (high evidence)

An additional case is found.
PMID 22532422 reports a patient with a CTC1 variant who developed right-sided thalamic calcification.

PMID 22899577 reports 4 patients with CTC1 variants from 3 families who developed intracranial cysts or calcification; however, the exact number of patients who developed intracranial calcification is not specified.

Created: 30 Mar 2023, 12:52 a.m. | Last Modified: 30 Mar 2023, 2:17 a.m.

Panel Version: 1.38

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199

Publications

• 22267198
• 22532422
• 22899577
• 22387016
• 24372060

Green List (high evidence)

Autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopaenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anaemia and thrombocytopaenia.

More than 20 unrelated families reported.

Created: 10 Nov 2020, 10:50 a.m. | Last Modified: 10 Nov 2020, 10:50 a.m.

Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199

Publications

• 22267198
• 22387016