A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
Gene
; 568(1): 109-11, 2015 Aug 15.
Article
em En
| MEDLINE
| ID: mdl-25958344
ABSTRACT
BACKGROUND:
Primary familial brain calcification (PFBC) is a rare neurodegenerative disease characterized by bilateral calcifications mostly located in the basal ganglia and in the thalami, cerebellum and subcortical white matter. Clinical manifestations of this disease include a large spectrum of movement disorders and neuropsychiatric disturbances. PFBC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. Three causative genes have been reported SLC20A2, PDGFRB and PDGFB.OBJECTIVE:
We screened three PFBC Italian families for mutations in the SLC20A2, PDGFRB and PDGFB genes.METHODS:
Phenotypic data were obtained by neurologic examination, CT scan and magnetic resonance imaging. Mutation screening of SLC20A2, PDGFRB and PDGFB was performed by sequencing.RESULTS:
We identified a new heterozygous deletion c.21_21delG (p.L7Ffs*10) in SLC20A2 gene in one of these families. No mutations were detected in the other two families.CONCLUSIONS:
Our data confirm that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças dos Gânglios da Base
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Calcinose
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Doenças Neurodegenerativas
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Proteínas Cotransportadoras de Sódio-Fosfato Tipo III
Limite:
Humans
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Male
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Gene
Ano de publicação:
2015
Tipo de documento:
Article