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

Autor:	Herjot Atwal, Paldeep S. Atwal, Patrick R. Blackburn, Jeremy D. Burgess, Jay A. van Gerpen, Jennifer Gass, Natasha N. DeMeo, John E. Richter
Rok vydání:	2017
Předmět:	0301 basic medicine Pathology medicine.medical_specialty hypocalcaemia Case Report PDGFRB Case Reports Fahr's syndrome 03 medical and health sciences 0302 clinical medicine autosomal dominant Medicine Hypocalcaemia Cognitive decline Likely pathogenic Exome sequencing business.industry primary familial brain calcification General Medicine medicine.disease Phenotype 030104 developmental biology CASR Cancer research whole‐exome sequencing business Intracranial calcification 030217 neurology & neurosurgery
Zdroj:	Clinical Case Reports
ISSN:	2050-0904
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c924399244435618590ae708b10a104 https://doi.org/10.1002/ccr3.1265 Zobrazit plný text záznamu Plný text