NM_000284.3(PDHA1):c.773A>C (p.Asp258Ala) AND Pyruvate dehydrogenase E1-alpha deficiency

Clinical significance:Pathogenic (Last evaluated: Jun 1, 1994)

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:
RCV000011628.12

Allele description [Variation Report for NM_000284.3(PDHA1):c.773A>C (p.Asp258Ala)]

NM_000284.3(PDHA1):c.773A>C (p.Asp258Ala)

Gene:
PDHA1:pyruvate dehydrogenase E1 alpha 1 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_000284.3(PDHA1):c.773A>C (p.Asp258Ala)
HGVS:
  • NC_000023.11:g.19355699A>C
  • NG_016781.1:g.16807A>C
  • NM_000284.3:c.773A>C
  • NP_000275.1:p.Asp258Ala
  • NC_000023.10:g.19373817A>C
  • P08559:p.Asp258Ala
Protein change:
D258A; ASP258ALA
Links:
UniProtKB: P08559#VAR_004958; OMIM: 300502.0011; dbSNP: rs137853253
NCBI 1000 Genomes Browser:
rs137853253
Molecular consequence:
  • NM_000284.3:c.773A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Synonyms:
X-linked Leigh syndrome; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY; ATAXIA WITH LACTIC ACIDOSIS I; See all synonyms [MedGen]
Identifiers:
MedGen: C1839413; OMIM: 312170

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031860OMIMno assertion criteria providedPathogenic
(Jun 1, 1994)
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

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

Matthews PM, Brown RM, Otero LJ, Marchington DR, LeGris M, Howes R, Meadows LS, Shevell M, Scriver CR, Brown GK.

Brain. 1994 Jun;117 ( Pt 3):435-43.

PubMed [citation]
PMID:
8032855

Details of each submission

From OMIM, SCV000031860.5

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

Description

Matthews et al. (1993) demonstrated an asp258-to-ala (D258A) mutation in the PDHA1 gene in a male infant with pyruvate dehydrogenase E1-alpha deficiency (PDHAD; 312170) presenting as Leigh syndrome. The infant was delivered by cesarean section at 36 weeks' gestation because of worsening preeclampsia and a breech presentation. On delivery, the infant was limp and apneic. He showed little growth or development and died at about 13 weeks. The pathologic findings were consistent with subacute necrotizing encephalomyelopathy, and deficiency of the pyruvate dehydrogenase complex was demonstrated enzymatically.

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

Last Updated: Mar 30, 2019

Support Center