NM_002495.3(NDUFS4):c.99-1G>A AND Mitochondrial complex I deficiency, nuclear type 1

Clinical significance:Pathogenic (Last evaluated: May 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:
RCV000007294.3

Allele description [Variation Report for NM_002495.3(NDUFS4):c.99-1G>A]

NM_002495.3(NDUFS4):c.99-1G>A

Gene:
NDUFS4:NADH:ubiquinone oxidoreductase subunit S4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q11.2
Genomic location:
Preferred name:
NM_002495.3(NDUFS4):c.99-1G>A
HGVS:
  • NC_000005.10:g.53603451G>A
  • NG_008200.1:g.47817G>A
  • NM_002495.3:c.99-1G>A
  • NC_000005.9:g.52899281G>A
  • NM_002495.2:c.99-1G>A
Nucleotide change:
IVS1AS, G-A, -1
Links:
OMIM: 602694.0005; dbSNP: rs376281345
NCBI 1000 Genomes Browser:
rs376281345
Molecular consequence:
  • NM_002495.3:c.99-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1)
Synonyms:
NADH-COENZYME Q REDUCTASE DEFICIENCY; MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
Identifiers:
MedGen: CN257533; OMIM: 252010

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027490OMIMno assertion criteria providedPathogenic
(May 1, 2003)
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

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A.

Hum Genet. 2003 May;112(5-6):563-6. Epub 2003 Mar 4.

PubMed [citation]
PMID:
12616398

Details of each submission

From OMIM, SCV000027490.2

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

Description

Benit et al. (2003) identified 2 sisters iin a consanguineous family with complex I deficiency nuclear type 1 (MC1DN1; 252010) and Leigh syndrome (see 256000). Using microsatellite DNA markers flanking putative disease loci, they excluded 4 candidate loci and found homozygosity at the NDUFS4 locus. By direct sequencing they identified a homozygous splice acceptor site mutation in intron 1 of the NDUFS4 gene, IVS1AS-1G-A.

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

Last Updated: Mar 30, 2019

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