NM_018444.4(PDP1):c.851_853del (p.Leu284del) AND Pyruvate dehydrogenase phosphatase deficiency

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2005)

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:
RCV000004927.5

Allele description [Variation Report for NM_018444.4(PDP1):c.851_853del (p.Leu284del)]

NM_018444.4(PDP1):c.851_853del (p.Leu284del)

Gene:
PDP1:pyruvate dehydrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_018444.4(PDP1):c.851_853del (p.Leu284del)
HGVS:
  • NC_000008.11:g.93922910_93922912del
  • NG_012233.1:g.10977_10979del
  • NM_001161779.2:c.926_928del
  • NM_001161780.2:c.926_928del
  • NM_001161781.2:c.851_853del
  • NM_018444.4:c.851_853delMANE SELECT
  • NP_001155251.1:p.Leu309del
  • NP_001155252.1:p.Leu309del
  • NP_001155253.1:p.Leu284del
  • NP_060914.2:p.Leu284del
  • NC_000008.10:g.94935138_94935140del
Protein change:
L284del
Links:
OMIM: 605993.0001; dbSNP: rs1554572756
NCBI 1000 Genomes Browser:
rs1554572756
Molecular consequence:
  • NM_001161779.2:c.926_928del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001161780.2:c.926_928del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001161781.2:c.851_853del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_018444.4:c.851_853del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Pyruvate dehydrogenase phosphatase deficiency (PDHPD)
Synonyms:
Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency
Identifiers:
MONDO: MONDO:0012120; MedGen: C1837429; OMIM: 608782

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025103OMIMno assertion criteria providedPathogenic
(Jul 1, 2005)
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 phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.

Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM.

J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. Epub 2005 Apr 26.

PubMed [citation]
PMID:
15855260

Details of each submission

From OMIM, SCV000025103.5

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

Description

In 2 brothers of Turkish origin, the children of first-cousin parents, with pyruvate dehydrogenase phosphatase deficiency (PDHPD; 608782), Maj et al. (2005) found homozygosity for a 3-bp deletion in the PDP1 gene as the cause of the disorder. The deletion removed the evolutionarily conserved leucine residue from position 213 of the protein. A recombinant version of this protein had a very reduced (less than 5%) ability to activate purified PDHC. Reduced steady-state levels of PDP1 in the patient's fibroblasts coupled with the low catalytic activity of the mutant PDP1 resulted in native PDHC activity being reduced, but this could be corrected by the addition of recombinant wildtype PDP1.

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

Last Updated: Oct 24, 2021

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