DSG4, EX5-8DEL AND Hypotrichosis 6

Clinical significance:Pathogenic (Last evaluated: Sep 20, 2011)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002838.1

Allele description [Variation Report for DSG4, EX5-8DEL]

Gene:
DSG4:desmoglein 4 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
18q12
HGVS:
    Nucleotide change:
    EX5-8DEL
    Links:
    OMIM: 607892.0001

    Condition(s)

    Name:
    Hypotrichosis 6 (HYPT6)
    Synonyms:
    HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; MONILETHRIX-LIKE HYPOTRICHOSIS
    Identifiers:
    MedGen: C1842839; OMIM: 607903; Orphanet: 55654
    Age of onset:
    Childhood
    Prevalence:
    <1 / 1 000 000 55654

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    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000022996OMIMPathogenic
    (Sep 20, 2011)
    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

    Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.

    Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM.

    Cell. 2003 Apr 18;113(2):249-60.

    PubMed [citation]
    PMID:
    12705872

    Details of each submission

    From OMIM, SCV000022996.1

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

    Description

    In affected individuals from 2 consanguineous Pakistani pedigrees with localized autosomal recessive hypotrichosis (LAH1; 607903), Kljuic et al. (2003) identified an identical homozygous deletion within the DSG4 gene. The deletion began 35 bp upstream of exon 5 and ended 289 bp downstream of exon 8. This mutation generated an in-frame deletion resulting in a predicted protein missing amino acids 125 to 335.

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

    Last Updated: Jul 20, 2014

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