Open AccessCo‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
Author(s) -
DeMeo Natasha N.,
Burgess Jeremy D.,
Blackburn Patrick R.,
Gass Jennifer M.,
Richter John,
Atwal Herjot K.,
Gerpen Jay A.,
Atwal Paldeep S.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1265
Subject(s) - pdgfrb , hypocalcaemia , medicine , phenotype , exome sequencing , fasciculation , bioinformatics , gene , genetics , biology , anesthesia , calcium
Key Clinical Message 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.