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.

原发性家族性脑钙化 (PFBC) 是一种以颅内钙化为特征的神经系统疾病，主要累及基底节、丘脑和齿状核。到目前为止，有六个基因与这种情况有关：SLC20A2、PDGFRB、PDGFB和XPR1作为常染色体显性性状遗传，而MYORG和JAM2呈现隐性遗传模式。患者主要表现为运动障碍、精神障碍和认知能力下降或完全无症状，钙化可能是偶然发现的。这里我们介绍SLC20A2 中的三种变体，两个外显子和一个内含子，我们在与三种不同临床表型相关的 PFBC 患者中发现了这一点。一个变体是新的，两个已经被描述为意义不确定的变体。我们证实了这三种变异的致病性，并建议扩大与SLC20A2突变相关的表型谱。