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Lene Pedersen

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

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  • J B Ferreira, Biological Sciences Graduate Program, Universidade Federal de Pernambuco (UFPE), Recife, Brazil., Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil
  • ,
  • L Pimentel, Biological Sciences Graduate Program, Universidade Federal de Pernambuco (UFPE), Recife, Brazil., Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil , Denmark
  • M P Keasey, Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil , Brazil
  • R R Lemos, Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil , Brazil
  • L M Santos, Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil , Brazil
  • M F Oliveira, Neurosurgery Residency Program, Hospital do Servidor Publico Estadual de São Paulo, São Paulo, SP, Brazil , Brazil
  • S Santos, Forensics Lab-Social Defense Secretary, Governo do Estado de Pernambuco, Recife, Brazil , Brazil
  • Nina Jensen
  • ,
  • K Teixeira, Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil , Brazil
  • Lene Pedersen
  • C R Rocha, Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil , Brazil
  • M R Dias da Silva, Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil , Brazil
  • J R M Oliveira, Biological Sciences Graduate Program, Universidade Federal de Pernambuco (UFPE), Recife, Brazil., Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil , Neuropsychiatry Department, Universidade Federal de Pernambuco, Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife, PE, CEP 50670-901, Brazil , Brazil

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 ~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.

Original languageEnglish
JournalJournal of Molecular Neuroscience
Volume54
Issue4
Pages (from-to)748-751
Number of pages4
ISSN0895-8696
DOIs
Publication statusPublished - 1 Dec 2014

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