NM_003849.3(SUCLG1):c.448C>T (p.Gln150Ter) AND Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2010)

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:
RCV000001043.3

Allele description [Variation Report for NM_003849.3(SUCLG1):c.448C>T (p.Gln150Ter)]

NM_003849.3(SUCLG1):c.448C>T (p.Gln150Ter)

Gene:
SUCLG1:succinate-CoA ligase alpha subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_003849.3(SUCLG1):c.448C>T (p.Gln150Ter)
HGVS:
  • NC_000002.12:g.84441330G>A
  • NG_016755.1:g.23133C>T
  • NM_003849.3:c.448C>T
  • NP_003840.2:p.Gln150Ter
  • NC_000002.11:g.84668454G>A
Protein change:
Q150*; GLN150TER
Links:
OMIM: 611224.0005; dbSNP: rs267607098
NCBI 1000 Genomes Browser:
rs267607098
Molecular consequence:
  • NM_003849.3:c.448C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) (MTDPS9)
Identifiers:
MedGen: C3151476; Orphanet: 17; OMIM: 245400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021193OMIMno assertion criteria providedPathogenic
(Oct 1, 2010)
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

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V.

J Med Genet. 2010 Oct;47(10):670-6. doi: 10.1136/jmg.2009.073445. Epub 2010 Aug 7.

PubMed [citation]
PMID:
20693550

Details of each submission

From OMIM, SCV000021193.2

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

Description

In a patient with encephalomyopathic mitochondrial DNA depletion syndrome-9 with methylmalonic aciduria (MTDPS9; 245400), Rouzier et al. (2010) identified a heterozygous 448C-T transition in the SUCLG1 gene, resulting in a gln150-to-ter (Q150X) substitution. A second mutation was not identified, but immunoblot analysis showed decreased amounts of both the SUCLG1 and SUCLA2 proteins in patient fibroblasts compared to controls. These results were consistent with a destabilization of SUCLA2. Although the patient had severe hypotonia, lactic acidosis, and mental retardation, he presented at age 3 months after a period of normal development and was still alive at age 12 years. Skeletal muscle biopsy showed markedly reduced activities for respiratory complexes I and IV, and severe mtDNA depletion (18% of controls). Rouzier et al. (2010) concluded that the slightly milder phenotype in this patient was due to some residual enzyme activity.

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

Last Updated: Mar 30, 2019

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