Early onset dystonia

Gene: DLAT

Green List (high evidence)

DLAT (dihydrolipoamide S-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 14 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: 3 unrelated cases with plausible disease causing variants in the DLAT gene. All cases show dystonia in childhood.
Created: 20 Dec 2018, 9:21 a.m.
Associated with Pyruvate dehydrogenase E2 deficiency in OMIM and Gene2Phenotype with Dystonia, episodic listed as a clinical feature in OMIM.

PMID: 20022530 - McWilliam et al (2010) -two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency caused by defects in the E2 subunit. They were compound heterozygotes for two mutations in the DLAT gene. Parents were each carriers for one mutation. One is a nonsense mutation in exon 3, the other is an unusual base substitution 7 bp downstream from a 5′ donor splice site which results in exon 6 being skipped in some transcripts.

PMID: 16049940 - Head et al (2005) - two unrelated patients who are homozygous for different mutations in the DLAT gene for the E2 subunit - a deletion of a glutamic acid residue in the outer lipoyl domain of the protein, and a missense mutation that leads to substitution of leucine for phenylalanine in the catalytic site. Both showed dystonia in childhood.
Created: 19 Dec 2018, 5:53 p.m.

Chris Buxton (North Bristol NHS Trust)

I don't know

3 unrelated individuals with dystonia secondary to a metabolic disorder
McWilliam (2010, 20022530), Two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency caused by defects in the E2 subunit. Both have neuroimaging features similar to previously described patients and have mutations in the DLAT gene.
Head (2005, 16049940). 2 unrelated individuals from consanginious families with homozygous DLAT variants and pyruvate dehydrogenase deficiency.
Created: 7 Dec 2018, 4:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

episodic dystonia; pyruvate dehydrogenase deficiency


History Filter Activity

20 Dec 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: DLAT were changed from Dystonia to episodic dystonia; pyruvate dehydrogenase deficiency; Pyruvate dehydrogenase E2 deficiency

20 Dec 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DLAT were set to

20 Dec 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dlat has been classified as Green List (High Evidence).

17 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DLAT was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory