GDF6, GLU292ASP AND Leber congenital amaurosis 17

Clinical significance:Pathogenic (Last evaluated: Aug 6, 2013)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000054425.1

Allele description [Variation Report for GDF6, GLU292ASP]

Gene:
GDF6:growth differentiation factor 6 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.1
HGVS:
    Protein change:
    E292D; GLU292ASP
    Links:
    OMIM: 601147.0009

    Condition(s)

    Name:
    Leber congenital amaurosis 17 (LCA17)
    Identifiers:
    MedGen: CN178541; OMIM: 615360; Orphanet: 65
    Age of onset:
    Neonatal/infancy
    Prevalence:
    1-9 / 100 000 65

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    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000082902OMIMPathogenic
    (Aug 6, 2013)
    germlineliterature only

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

    Summary from all submissions

    EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

    Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauvé Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ.

    Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. Epub 2013 Jan 9.

    PubMed [citation]
    PMID:
    23307924

    Details of each submission

    From OMIM, SCV000082902.1

    #EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    In a female patient diagnosed with Leber congenital amaurosis (LCA17; 615360), Asai-Coakwell et al. (2013) identified heterozygosity for a c.876G-A transition in the GDF6 gene, resulting in a glu292-to-asp (E292D) substitution at a highly conserved residue. The mutation was also present in her clinically unaffected mother, but was not found in 1,500 control chromosomes. Western blot showed a 37% and a 56% increase in expression of the E292D mutant in the whole-cell lysate and media fractions, respectively, compared to wildtype; however, reporter assays demonstrated significantly reduced activation with the E292D mutant (69% decrease) compared to wildtype.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Jun 27, 2014

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