{"id":7663,"date":"2021-03-31T17:26:36","date_gmt":"2021-03-31T15:26:36","guid":{"rendered":"https:\/\/www.agingproject.uniupo.it\/la-ricerca\/pubblicazioni\/expanding-the-genetic-spectrum-of-primary-familial-brain-calcification-due-to-slc2oa2-mutations-a-case-series\/"},"modified":"2021-03-31T17:26:36","modified_gmt":"2021-03-31T15:26:36","slug":"expanding-the-genetic-spectrum-of-primary-familial-brain-calcification-due-to-slc2oa2-mutations-a-case-series","status":"publish","type":"pubblicazione","link":"https:\/\/www.agingproject.uniupo.it\/en\/research\/publications\/expanding-the-genetic-spectrum-of-primary-familial-brain-calcification-due-to-slc2oa2-mutations-a-case-series\/","title":{"rendered":"Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series"},"content":{"rendered":"<p>Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei.<\/p>\n<p>So far, six genes have been linked to this condition: <i>SLC20A2<\/i>,\u00a0<i>PDGFRB<\/i>,\u00a0<i>PDGFB<\/i>, and\u00a0<i>XPR1<\/i>\u00a0inherited as autosomal-dominant trait, while\u00a0<i>MYORG<\/i>\u00a0and\u00a0<i>JAM2<\/i>\u00a0present 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\u00a0<i>SLC20A2<\/i>, 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.<\/p>\n<p>We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in\u00a0<i>SLC20A2<\/i>.<\/p>\n","protected":false},"template":"","categoria-pubblicazioni":[5054],"class_list":["post-7663","pubblicazione","type-pubblicazione","status-publish","hentry","categoria-pubblicazioni-neuroaging"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.6 (Yoast SEO v26.7) - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series | Aging Project Uniupo<\/title>\n<meta name=\"description\" content=\"In this paper, three variants in the SLC20A2 gene are presented, found in patients with primary familial cerebral calcification.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, 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