Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.
Natasha N DeMeoJeremy D BurgessPatrick R BlackburnJennifer M GassJohn RichterHerjot K AtwalJay A van GerpenPaldeep S AtwalPublished in: Clinical case reports (2017)
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.