Novel likely pathogenic SLC20A variant in primary familial brain calcification.
| Autor: | Sharma R; Department of Neurology, University of Minnesota Medical School Twin Cities, Minneapolis, Minnesota, USA sharm415@umn.edu., Stitt D; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. |
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| Jazyk: | angličtina |
| Zdroj: | BMJ case reports [BMJ Case Rep] 2022 Mar 02; Vol. 15 (3). Date of Electronic Publication: 2022 Mar 02. |
| DOI: | 10.1136/bcr-2021-245909 |
| Abstrakt: | A woman in her 30s was referred to our neurology outpatient clinic following an incidental finding of significant bilateral and symmetric basal ganglia, thalamic, cerebellar and subcortical white matter calcification on brain CT and MRI. A diagnosis of asymptomatic primary familial brain calcification (PFBC) was made. Targeted genetic testing revealed a likely pathogenic variant in the SLC20A2 gene, the most common gene in which pathogenic variants have been implicated in PFBC. These findings prompted genetic testing and brain CT of our patient's asymptomatic 64-year-old father. These tests revealed the same variant in SLC20A2 and similar brain calcification on CT in the patient's father. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.) |
| Databáze: | MEDLINE |
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