First Report of a de Novo Mutation at SLC20A2 in a Patient with Brain Calcification

Date
2014-12-01Author
Ferreira, J. B.
Pimentel, L.
Keasey, M. P.
Lemos, R. R.
Santos, L. M. [UNIFESP]
Oliveira, M. F.
Santos, S.
Jensen, N.
Teixeira, K.
Pedersen, L.
Rocha, C. R.
Dias da Silva, M. R. [UNIFESP]
Oliveira, J. R. M.
Type
ArtigoISSN
0895-8696Is part of
Journal of Molecular NeuroscienceDOI
10.1007/s12031-014-0357-9Metadata
Show full item recordAbstract
Primary familial brain calcification (PFBC) is identified by mineralization of the basal ganglia and other brain regions in the absence of known causes. the condition is often inherited in an autosomal dominant pattern and can manifest itself clinically with neuropsychiatric symptoms such as Parkinsonism, headaches, psychosis, and mood swings. Mutations in the SLC20A2 gene account for similar to 40 % of inherited cases, and this gene encodes an inorganic phosphate transporter (PiT-2), a transmembrane protein associated with Pi homeostasis. the p.Y386X mutation in SLC20A2 was identified in a patient who presented migraines, brain calcification, and mild but chronic hypovitaminosis D. SLC20A2 c.1158C > G single-nucleotide heterozygous mutation results in a premature stop codon and a putative truncated protein of 385 amino acids. Proband parents do not present the mutation, which is also not present in major public SNP databases, suggesting a de novo sporadic trait. This study describes for the first time a de novo SLC20A2 mutation in a PFBC patient with migraine and mild hypovitaminosis D. This data further reinforces the pathogenic role of SLC20A2 mutations as causal factors in PFBC physiopathology.
Citation
Journal of Molecular Neuroscience. Totowa: Humana Press Inc, v. 54, n. 4, p. 748-751, 2014.Sponsorship
FACEPEConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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