NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) AND Mucopolysaccharidosis type 7

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2003)

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:
RCV000000954.5

Allele description [Variation Report for NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn)]

NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn)

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn)
HGVS:
  • NC_000007.14:g.65974934C>G
  • NG_016197.1:g.12381G>C
  • NM_000181.4:c.1050G>CMANE SELECT
  • NM_001284290.2:c.612G>C
  • NM_001293104.2:c.480G>C
  • NM_001293105.2:c.393G>C
  • NP_000172.2:p.Lys350Asn
  • NP_001271219.1:p.Lys204Asn
  • NP_001280033.1:p.Lys160Asn
  • NP_001280034.1:p.Lys131Asn
  • NC_000007.13:g.65439921C>G
  • NR_120531.2:n.1080G>C
  • P08236:p.Lys350Asn
Protein change:
K131N; LYS350ASN
Links:
UniProtKB: P08236#VAR_037923; OMIM: 611499.0013; dbSNP: rs121918182
NCBI 1000 Genomes Browser:
rs121918182
Molecular consequence:
  • NM_000181.4:c.1050G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284290.2:c.612G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293104.2:c.480G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293105.2:c.393G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120531.2:n.1080G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mucopolysaccharidosis type 7 (MPS7)
Synonyms:
MPS VII; Mucopolysaccharidosis type VII; MPS 7; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009662; MedGen: C0085132; Orphanet: 584; OMIM: 253220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021104OMIMno assertion criteria providedPathogenic
(Feb 1, 2003)
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

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

Storch S, Wittenstein B, Islam R, Ullrich K, Sly WS, Braulke T.

Hum Genet. 2003 Feb;112(2):190-4. Epub 2002 Nov 5.

PubMed [citation]
PMID:
12522561

Beta-glucuronidase deficiency in a girl with unusual clinical features.

Pfeiffer RA, Kresse H, Bäumer N, Sattinger E.

Eur J Pediatr. 1977 Oct 12;126(3):155-61.

PubMed [citation]
PMID:
144057

Details of each submission

From OMIM, SCV000021104.4

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

Description

In a 37-year-old woman described as the longest known survivor of mucopolysaccharidosis type VII (MPS7; 253220), Storch et al. (2003) identified compound heterozygosity for 2 mutations in the GUSB gene: lys350-to-asn (K350N) in exon 6 and arg577-to-leu (R577L; 611499.0014) in exon 11. She had been reported by Pfeiffer et al. (1977) and had a relatively mild phenotype. She died unexpectedly at the age of 37 years, presumably as a consequence of cardiac arrest. Expression of the K350N mutation in baby hamster kidney cells revealed residual enzymatic activity and normal transport of the enzyme to the lysosome. However, expression of either the R577L or the R577L/K350N mutation resulted in rapid degradation of the enzyme in early biosynthetic compartments and a total loss of enzymatic activity. Storch et al. (2003) attributed the mild phenotype to the residual catalytic activity provided by the K350N mutant.

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

Last Updated: Oct 7, 2021

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