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Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as auto...

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Autores principales: Magistrelli, Luca, Croce, Roberta, De Marchi, Fabiola, Basagni, Chiara, Carecchio, Miryam, Nasuelli, Nicola, Cantello, Roberto, Invernizzi, Federica, Garavaglia, Barbara, Comi, Cristoforo, Mazzini, Letizia, D’Alfonso, Sandra, Corrado, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997821/
https://www.ncbi.nlm.nih.gov/pubmed/33471268
http://dx.doi.org/10.1007/s10048-021-00634-9
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author Magistrelli, Luca
Croce, Roberta
De Marchi, Fabiola
Basagni, Chiara
Carecchio, Miryam
Nasuelli, Nicola
Cantello, Roberto
Invernizzi, Federica
Garavaglia, Barbara
Comi, Cristoforo
Mazzini, Letizia
D’Alfonso, Sandra
Corrado, Lucia
author_facet Magistrelli, Luca
Croce, Roberta
De Marchi, Fabiola
Basagni, Chiara
Carecchio, Miryam
Nasuelli, Nicola
Cantello, Roberto
Invernizzi, Federica
Garavaglia, Barbara
Comi, Cristoforo
Mazzini, Letizia
D’Alfonso, Sandra
Corrado, Lucia
author_sort Magistrelli, Luca
collection PubMed
description Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.
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spelling pubmed-79978212021-04-16 Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series Magistrelli, Luca Croce, Roberta De Marchi, Fabiola Basagni, Chiara Carecchio, Miryam Nasuelli, Nicola Cantello, Roberto Invernizzi, Federica Garavaglia, Barbara Comi, Cristoforo Mazzini, Letizia D’Alfonso, Sandra Corrado, Lucia Neurogenetics Original Article Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2. Springer Berlin Heidelberg 2021-01-20 2021 /pmc/articles/PMC7997821/ /pubmed/33471268 http://dx.doi.org/10.1007/s10048-021-00634-9 Text en © The Author(s) 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Original Article
Magistrelli, Luca
Croce, Roberta
De Marchi, Fabiola
Basagni, Chiara
Carecchio, Miryam
Nasuelli, Nicola
Cantello, Roberto
Invernizzi, Federica
Garavaglia, Barbara
Comi, Cristoforo
Mazzini, Letizia
D’Alfonso, Sandra
Corrado, Lucia
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
title Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
title_full Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
title_fullStr Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
title_full_unstemmed Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
title_short Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
title_sort expanding the genetic spectrum of primary familial brain calcification due to slc2oa2 mutations: a case series
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997821/
https://www.ncbi.nlm.nih.gov/pubmed/33471268
http://dx.doi.org/10.1007/s10048-021-00634-9
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