NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter) AND Mitochondrial complex I deficiency, nuclear type 1

Clinical significance:Pathogenic (Last evaluated: Aug 18, 2000)

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:
RCV000735424.1

Allele description [Variation Report for NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter)]

NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter)

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.316C>T (p.Arg106Ter)
HGVS:
  • NC_000005.10:g.53646371C>T
  • NG_008200.1:g.90737C>T
  • NM_002495.3:c.316C>T
  • NP_002486.1:p.Arg106Ter
  • NC_000005.9:g.52942201C>T
  • NM_002495.2:c.316C>T
  • NR_134473.1:n.518C>T
Protein change:
R106*; ARG106TER
Links:
OMIM: 602694.0003; dbSNP: rs104893898
NCBI 1000 Genomes Browser:
rs104893898
Molecular consequence:
  • NR_134473.1:n.518C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_002495.3:c.316C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000027488OMIMno assertion criteria providedPathogenic
(Aug 18, 2000)
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

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.

Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA.

Biochem Biophys Res Commun. 2000 Aug 18;275(1):63-8.

PubMed [citation]
PMID:
10944442

Details of each submission

From OMIM, SCV000027488.2

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

Description

In a patient with complex I deficiency and decreased complex III activity, Budde et al. (2000) identified a 316C-T transition of the NDUFS4 cDNA, causing an arg106-to-stop amino acid change. The patient was homozygous for the mutation; his parents, who were consanguineous, and a brother were heterozygous. Except for hypospadias noted at birth, the patient appeared normal until the age of 7 weeks at which time muscular hypotonia and lack of visual and auditive attention were observed. At the age of 3 months he was found to have elevated lactate levels in the blood. Cranial MRI showed hyperintense signals resembling those found in Leigh syndrome (256000). Cardiac ultrasound showed concentric hypertrophy of the left ventricle with hypercontractility. He died from cardiocirculatory insufficiency.

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

Last Updated: Mar 30, 2019

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