NM_007262.4(PARK7):c.78G>A (p.Met26Ile) AND Parkinson disease 7

Clinical significance:Pathogenic (Last evaluated: Mar 27, 2015)

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:
RCV000007481.2

Allele description [Variation Report for NM_007262.4(PARK7):c.78G>A (p.Met26Ile)]

NM_007262.4(PARK7):c.78G>A (p.Met26Ile)

Gene:
PARK7:parkinson protein 7 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.23
Genomic location:
Preferred name:
NM_007262.4(PARK7):c.78G>A (p.Met26Ile)
HGVS:
  • NC_000001.11:g.7962863G>A
  • NG_008271.1:g.6210G>A
  • NM_007262.4:c.78G>A
  • NP_009193.2:p.Met26Ile
  • NC_000001.10:g.8022923G>A
Protein change:
M26I; MET26ILE
Links:
OMIM: 602533.0003; dbSNP: 74315351
NCBI 1000 Genomes Browser:
rs74315351
Molecular consequence:
  • NM_007262.4:c.78G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Parkinson disease 7 (PARK7)
Synonyms:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
Identifiers:
MedGen: C1853445; Orphanet: 2828; OMIM: 606324
Age of onset:
Adulthood
Prevalence:
1-5 / 10 000 2828

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027681OMIMno assertion criteria providedPathogenic
(Mar 27, 2015)
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

The role of pathogenic DJ-1 mutations in Parkinson's disease.

Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW.

Ann Neurol. 2003 Sep;54(3):283-6.

PubMed [citation]
PMID:
12953260

DJ-1 induces thioredoxin 1 expression through the Nrf2 pathway.

Im JY, Lee KW, Woo JM, Junn E, Mouradian MM.

Hum Mol Genet. 2012 Jul 1;21(13):3013-24. doi: 10.1093/hmg/dds131. Epub 2012 Apr 5.

PubMed [citation]
PMID:
22492997
PMCID:
PMC3373246

Details of each submission

From OMIM, SCV000027681.2

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

Description

In an Ashkenazi Jewish patient with early-onset Parkinson disease (606324), Abou-Sleiman et al. (2003) identified a homozygous A-to-G change in exon 2 of the DJ1 gene, resulting in a met26-to-ile (M26I) substitution. The mutation was not present in more than 1,000 control chromosomes.

Im et al. (2012) found that DJ1 with the M26I substitution was unable to induce TRX1 (187700) expression or to protect transfected HeLa cells from H2O2-induced cytotoxicity. Wildtype, but not mutant DJ1, mediated H2O2-induced and DJ1-dependent expression and nuclear translocation of NRF2 (600492) and enhanced recruitment of NRF2 to the antioxidant response element in the TRX1 promoter region.

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

Last Updated: Mar 29, 2015