SGSH, 9-BP DEL, NT1307 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:
RCV000005422.4

Allele description [Variation Report for SGSH, 9-BP DEL, NT1307]

SGSH, 9-BP DEL, NT1307

Gene:
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.3
Preferred name:
SGSH, 9-BP DEL, NT1307
HGVS:
    Nucleotide change:
    9-BP DEL, NT1307
    Links:
    OMIM: 605270.0007

    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
    SCV000025604OMIMno assertion criteria providedPathogenic
    (May 1, 1997)
    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 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

    Details of each submission

    From OMIM, SCV000025604.3

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

    Description

    In a patient with mucopolysaccharidosis type IIIA (MPS3A; 252900), Blanch et al. (1997) found a 9-bp deletion of the SGSH gene, beginning at nucleotide 1307. This deletion resulted in the last 2 bases of codon 432 being changed from AC to GC, leading to a tyrosine-to-tryptophan substitution (Y432W). Additionally, the next 3 amino acids (arg433, ala434, and arg435) were deleted before restoration of the normal reading frame at trp436.

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

    Last Updated: Mar 7, 2021

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