SGSH, 11-BP DEL, NT1284 AND Mucopolysaccharidosis, MPS-III-A

Clinical significance:Pathogenic (Last evaluated: May 1, 1997)

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:
RCV000005423.4

Allele description [Variation Report for SGSH, 11-BP DEL, NT1284]

SGSH, 11-BP DEL, NT1284

Gene:
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.3
Preferred name:
SGSH, 11-BP DEL, NT1284
HGVS:
    Nucleotide change:
    11-BP DEL, NT1284
    Links:
    OMIM: 605270.0008

    Condition(s)

    Name:
    Mucopolysaccharidosis, MPS-III-A (MPS3A)
    Synonyms:
    SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000025605OMIMno assertion criteria providedPathogenic
    (May 1, 1997)
    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

    Molecular defects in Sanfilippo syndrome type A.

    Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ.

    Hum Mol Genet. 1997 May;6(5):787-91.

    PubMed [citation]
    PMID:
    9158154

    Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.

    Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ.

    Nat Genet. 1995 Dec;11(4):465-7.

    PubMed [citation]
    PMID:
    7493035

    Details of each submission

    From OMIM, SCV000025605.3

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

    Description

    In a patient with mucopolysaccharidosis type IIIA (MPS3A; 252900), Blanch et al. (1997) found an 11-bp deletion of the SGSH gene, beginning at nucleotide 1284. This deletion resulted in a change of the last base of codon 424 from C to G, altering the original tyrosine to a stop codon and leading to a 78-amino acid shortened sulfamidase.

    Scott et al. (1995) identified this mutation in sulfamidase cDNA from 2 unrelated patients with Sanfilippo syndrome A.

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

    Last Updated: Mar 7, 2021

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