GLA, 4-BP DEL, 1284ACTT AND Fabry disease

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2003)

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:
RCV000011520.2

Allele description [Variation Report for GLA, 4-BP DEL, 1284ACTT]

GLA, 4-BP DEL, 1284ACTT

Gene:
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22
Preferred name:
GLA, 4-BP DEL, 1284ACTT
HGVS:
    Nucleotide change:
    4-BP DEL, 1284ACTT
    Links:
    OMIM: 300644.0061

    Condition(s)

    Name:
    Fabry disease
    Synonyms:
    Fabry's disease
    Identifiers:
    MedGen: C0002986; Orphanet: 324; OMIM: 301500
    Age of onset:
    Childhood
    Prevalence:
    1-9 / 1 000 000 324

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000031752OMIMno assertion criteria providedPathogenic
    (Jul 1, 2003)
    germlineliterature only

    PubMed (1)
    [See all records that cite this PMID]

    Summary from all submissions

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

    Citations

    PubMed

    Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.

    Yasuda M, Shabbeer J, Osawa M, Desnick RJ.

    Am J Hum Genet. 2003 Jul;73(1):162-73. Epub 2003 Jun 6.

    PubMed [citation]
    PMID:
    12796853
    PMCID:
    PMC1180577

    Details of each submission

    From OMIM, SCV000031752.1

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

    Description

    In a patient with classic Fabry disease (301500), Yasuda et al. (2003) identified a 4-bp deletion, 1284delACTT, in the GLA gene. The patient was a 51-year-old Brazilian man who had childhood onset of acroparesthesias, angiokeratoma, hypohidrosis, and corneal opacities. He had microalbuminuria, which may have been secondary to his diabetes mellitus, but retained normal renal function. He had no evidence of cardiac or cerebral involvement.

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

    Last Updated: Aug 13, 2017