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NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs) AND Mucopolysaccharidosis, MPS-III-D

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000003069.4

Allele description [Variation Report for NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)]

NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)

Gene:
GNS:glucosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12q14.3
Genomic location:
Preferred name:
NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)
HGVS:
  • NC_000012.12:g.64729017_64729018insAGGAC
  • NG_008955.1:g.35429_35430insGTCCT
  • NM_002076.4:c.1138_1139insGTCCTMANE SELECT
  • NP_002067.1:p.Asp380fs
  • NC_000012.11:g.65122797_65122798insAGGAC
  • NM_002076.3:c.1138_1139insGTCCT
Protein change:
D380fs
Links:
OMIM: 607664.0004; dbSNP: rs483352899
NCBI 1000 Genomes Browser:
rs483352899
Molecular consequence:
  • NM_002076.4:c.1138_1139insGTCCT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-D (MPS3D)
Synonyms:
N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY; MPS III D; Mucopoly-saccharidosis type 3D; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009658; MedGen: C0086650; Orphanet: 581; Orphanet: 79272; OMIM: 252940

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023227OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2007) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.

Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E.

Arch Neurol. 2007 Nov;64(11):1629-34.

PubMed [citation]
PMID:
17998446

Details of each submission

From OMIM, SCV000023227.3

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

Description

In a 15-year-old Turkish English girl with mucopolysaccharidosis type IIID (252940), Jansen et al. (2007) identified a homozygous 5-bp insertion (1138insGTCCT) in exon 10 of the GNS gene, resulting in a frameshift and premature termination of the protein at residue 389. She was severely retarded and fully dependent on assistance for all activities of daily living.

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

Last Updated: Jul 8, 2022