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

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 C...

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Autores principales: DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A., Atwal, Paldeep S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771904/
https://www.ncbi.nlm.nih.gov/pubmed/29375828
http://dx.doi.org/10.1002/ccr3.1265
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author DeMeo, Natasha N.
Burgess, Jeremy D.
Blackburn, Patrick R.
Gass, Jennifer M.
Richter, John
Atwal, Herjot K.
van Gerpen, Jay A.
Atwal, Paldeep S.
author_facet DeMeo, Natasha N.
Burgess, Jeremy D.
Blackburn, Patrick R.
Gass, Jennifer M.
Richter, John
Atwal, Herjot K.
van Gerpen, Jay A.
Atwal, Paldeep S.
author_sort DeMeo, Natasha N.
collection PubMed
description 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.
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spelling pubmed-57719042018-01-26 Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia DeMeo, Natasha N. Burgess, Jeremy D. Blackburn, Patrick R. Gass, Jennifer M. Richter, John Atwal, Herjot K. van Gerpen, Jay A. Atwal, Paldeep S. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-11-20 /pmc/articles/PMC5771904/ /pubmed/29375828 http://dx.doi.org/10.1002/ccr3.1265 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
DeMeo, Natasha N.
Burgess, Jeremy D.
Blackburn, Patrick R.
Gass, Jennifer M.
Richter, John
Atwal, Herjot K.
van Gerpen, Jay A.
Atwal, Paldeep S.
Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
title Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
title_full Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
title_fullStr Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
title_full_unstemmed Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
title_short Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
title_sort co‐occurrence of a novel pdgfrb variant and likely pathogenic variant in casr in an individual with extensive intracranial calcifications and hypocalcaemia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771904/
https://www.ncbi.nlm.nih.gov/pubmed/29375828
http://dx.doi.org/10.1002/ccr3.1265
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