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Clin Case Rep. 2017 Nov 20;6(1):8-13. doi: 10.1002/ccr3.1265. eCollection 2018 Jan.

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

Author information

1
Department of Neuroscience Mayo Clinic Jacksonville Florida.
2
Center for Individualized Medicine Mayo Clinic Jacksonville Florida.
3
Department of Health Sciences Research Mayo Clinic Jacksonville Florida.
4
Department of Clinical Genomics Mayo Clinic Jacksonville Florida.
5
Department of Pharmacy Mayo Clinic Jacksonville Florida.
6
Department of Neurology Mayo Clinic Jacksonville Florida.

Abstract

This case report describes an individual with brain calcifications, cognitive decline, motor dysfunction, and hypocalcaemia. Exome sequencing revealed a previously reported variant in the CASR gene and a variant of uncertain significance in PDGFRB. The clinical phenotype is likely explained by the CASR variant, but we discuss how the PDGFRB variant could also participate in the phenotype.

KEYWORDS:

CASR; Fahr's syndrome; PDGFRB; autosomal dominant; hypocalcaemia; primary familial brain calcification; whole‐exome sequencing

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