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

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First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification. / Ferreira, J B; Pimentel, L; Keasey, M P; Lemos, R R; Santos, L M; Oliveira, M F; Santos, S; Jensen, Nina; Teixeira, K; Pedersen, Lene; Rocha, C R; Dias da Silva, M R; Oliveira, J R M.

I: Journal of Molecular Neuroscience, Bind 54, Nr. 4, 01.12.2014, s. 748-751.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

Harvard

Ferreira, JB, Pimentel, L, Keasey, MP, Lemos, RR, Santos, LM, Oliveira, MF, Santos, S, Jensen, N, Teixeira, K, Pedersen, L, Rocha, CR, Dias da Silva, MR & Oliveira, JRM 2014, 'First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification', Journal of Molecular Neuroscience, bind 54, nr. 4, s. 748-751. https://doi.org/10.1007/s12031-014-0357-9

APA

Ferreira, J. B., Pimentel, L., Keasey, M. P., Lemos, R. R., Santos, L. M., Oliveira, M. F., ... Oliveira, J. R. M. (2014). First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification. Journal of Molecular Neuroscience, 54(4), 748-751. https://doi.org/10.1007/s12031-014-0357-9

CBE

Ferreira JB, Pimentel L, Keasey MP, Lemos RR, Santos LM, Oliveira MF, Santos S, Jensen N, Teixeira K, Pedersen L, Rocha CR, Dias da Silva MR, Oliveira JRM. 2014. First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification. Journal of Molecular Neuroscience. 54(4):748-751. https://doi.org/10.1007/s12031-014-0357-9

MLA

Vancouver

Ferreira JB, Pimentel L, Keasey MP, Lemos RR, Santos LM, Oliveira MF o.a. First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification. Journal of Molecular Neuroscience. 2014 dec 1;54(4):748-751. https://doi.org/10.1007/s12031-014-0357-9

Author

Ferreira, J B ; Pimentel, L ; Keasey, M P ; Lemos, R R ; Santos, L M ; Oliveira, M F ; Santos, S ; Jensen, Nina ; Teixeira, K ; Pedersen, Lene ; Rocha, C R ; Dias da Silva, M R ; Oliveira, J R M. / First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification. I: Journal of Molecular Neuroscience. 2014 ; Bind 54, Nr. 4. s. 748-751.

Bibtex

@article{7ae852071f6641cfbec1e88ab1c7c4f5,
title = "First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification",
abstract = "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.",
author = "Ferreira, {J B} and L Pimentel and Keasey, {M P} and Lemos, {R R} and Santos, {L M} and Oliveira, {M F} and S Santos and Nina Jensen and K Teixeira and Lene Pedersen and Rocha, {C R} and {Dias da Silva}, {M R} and Oliveira, {J R M}",
year = "2014",
month = "12",
day = "1",
doi = "10.1007/s12031-014-0357-9",
language = "English",
volume = "54",
pages = "748--751",
journal = "Journal of Molecular Neuroscience",
issn = "0895-8696",
publisher = "Humana Press, Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification

AU - Ferreira, J B

AU - Pimentel, L

AU - Keasey, M P

AU - Lemos, R R

AU - Santos, L M

AU - Oliveira, M F

AU - Santos, S

AU - Jensen, Nina

AU - Teixeira, K

AU - Pedersen, Lene

AU - Rocha, C R

AU - Dias da Silva, M R

AU - Oliveira, J R M

PY - 2014/12/1

Y1 - 2014/12/1

N2 - 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.

AB - 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.

U2 - 10.1007/s12031-014-0357-9

DO - 10.1007/s12031-014-0357-9

M3 - Journal article

C2 - 24969325

VL - 54

SP - 748

EP - 751

JO - Journal of Molecular Neuroscience

JF - Journal of Molecular Neuroscience

SN - 0895-8696

IS - 4

ER -