SLC26A4, 1-BP DEL, 1197T AND Pendred syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2000)

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:
RCV000005102.4

Allele description [Variation Report for SLC26A4, 1-BP DEL, 1197T]

SLC26A4, 1-BP DEL, 1197T

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q31
Preferred name:
SLC26A4, 1-BP DEL, 1197T
HGVS:
    Nucleotide change:
    1-BP DEL, 1197T
    Links:
    OMIM: 605646.0020

    Condition(s)

    Name:
    Pendred syndrome (PDS)
    Synonyms:
    HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000025278OMIMno assertion criteria providedPathogenic
    (Jul 1, 2000)
    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

    Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

    Fugazzola L, Mannavola D, Cerutti N, Maghnie M, Pagella F, Bianchi P, Weber G, Persani L, Beck-Peccoz P.

    J Clin Endocrinol Metab. 2000 Jul;85(7):2469-75.

    PubMed [citation]
    PMID:
    10902795

    Details of each submission

    From OMIM, SCV000025278.3

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

    Description

    Fugazzola et al. (2000) studied 3 Italian families presenting with the clinical features of Pendred syndrome (PDS; 274600). One subject, the only patient with enlargement of vestibular aqueduct and endolymphatic duct and sac at MRI, was compound heterozygous for a deletion in exon 10 of the SLC26A4 gene (1197delT) and a 1-bp insertion in exon 9 (605646.0021). The 1197delT mutation leads to a frameshift at codon 400, followed by premature termination at codon 431.

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

    Last Updated: Oct 7, 2021

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