SLC20A2, GLY498ARG AND Idiopathic basal ganglia calcification 1

Clinical significance:Pathogenic (Last evaluated: Feb 12, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000022662.28

Allele description [Variation Report for SLC20A2, GLY498ARG]

SLC20A2, GLY498ARG

Gene:
SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p12-q12
Preferred name:
SLC20A2, GLY498ARG
HGVS:
    Protein change:
    G498R; GLY498ARG
    Links:
    OMIM: 158378.0001

    Condition(s)

    Name:
    Idiopathic basal ganglia calcification 1 (IBGC1)
    Synonyms:
    Fahr's syndrome; Basal ganglia calcification, idiopathic, 3; Primary Familial Brain Calcification; See all synonyms [MedGen]
    Identifiers:
    Gene: 23706; MedGen: C0393590; Orphanet: 1980; OMIM: 213600

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000043951OMIMno assertion criteria providedPathogenic
    (Feb 12, 2012)
    germlineliterature only

    PubMed (2)
    [See all records that cite these PMIDs]

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.

    Dai X, Gao Y, Xu Z, Cui X, Liu J, Li Y, Xu H, Liu M, Wang QK, Liu JY.

    Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1305-10. doi: 10.1002/ajmg.b.31102.

    PubMed [citation]
    PMID:
    20552677

    Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

    Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, et al.

    Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.

    PubMed [citation]
    PMID:
    22327515

    Details of each submission

    From OMIM, SCV000043951.4

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (2)

    Description

    In affected members of the 5-generation Chinese family with idiopathic basal ganglia calcification-1 (IBGC1; 213600) originally reported by Dai et al. (2010), Wang et al. (2012) identified a heterozygous 1492G-A transition in the SLC20A2 gene, resulting in a gly498-to-arg (G498R) substitution in a highly conserved residue in transmembrane domain VIII. The mutation was not found in 508 Chinese controls, in the 1000 Genomes Project database, or in 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate. In this family, 9 individuals had idiopathic basal ganglia calcification, but only 4 had clinical symptoms of headache, 1 also with depression; 5 were asymptomatic. Brain imaging of the 36-year-old proband showed symmetric calcium deposition in the caudate nucleus, lentiform nucleus, globus pallidus, inferior part of thalamus, and occipitalis lobes. All were adults, except for 1 asymptomatic 9-year-old boy, who had calcifications only in the globus pallidus.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 9, 2017