Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series-Reference-Cited by-同舟云学术

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

Published:2021-01-20 Issue:1 Volume:22 Page:65-70
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

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

Abstract

AbstractPrimary 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.

Funder

Università degli Studi del Piemonte Orientale Amedeo Avogrado

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-021-00634-9.pdf

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