Early onset or syndromic epilepsy
Gene: SUCLG1
better tested through the mito panel. Mitochondrial disorders can associated with seizures, but the evidence is not specifically implicated. There are reports of disease-causing variants being associated with lactic acidosis with mitochondrial DNA depletion.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Publications
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Added 'watchlist' tag.Created: 13 Nov 2018, 1:50 p.m.
PMID:26475597 (Carrozzo et al 2016) report 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. Of the 71 patients, 50 had SUCLA2 mutations and 21 had SUCLG1 mutations. Epilepsy was much more frequent in patients with SUCLA2 mutations compared to patients with SUCLG1 mutations: Only 1 patient with the SUCLG1 variant had epilepsy.Created: 13 Nov 2018, 1:44 p.m.
Comment when marking as ready: Marked as Ready: November 13th 2018.Created: 13 Nov 2018, 11:40 a.m.
PMID:22231385 (Honzik et al 2012) report 1 patient with SUCLG1 variant, who did not have seizures.Created: 13 Nov 2018, 11:39 a.m.
Comment on list classification: Kept rating as Amber. Confirmed DD-G2P gene for FATAL INFANTILE LACTIC ACIDOSIS. Although patients with SUCLG1 variants can report with seizures (1 of 25 patients in PMID:26475597, 1 of 3 patients in PMID:26028457 plus EEG abnormalities in PMID:27484306), there are currently insufficient cases to rate as diagnostic.Created: 13 Nov 2018, 11:39 a.m.
PMID:28358460 gives an overview of treatment of seizures when present in SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome patients.Created: 13 Nov 2018, 11:37 a.m.
Seizures are not reported in the clinical phenotype of patients in PMIDs 17668387, 19526370 and 20693550, which report patients with SUCLG1 variants.Created: 13 Nov 2018, 11:37 a.m.
Comment on publications: PMID:27143079 article is in Chinese. From the abstract, Liu et al, 2016 report four Chinese patients with severe psychomotor retardation, hypotonia, seizures, feeding problems and failure to thrive. Three of them had intractable epilepsies. Five mutations, c.550G>A, c.751C>T, c.809A>C, c.961C>G and c.826-2A>G in SUCLG1 of three patients were identified. The article is in Chinese. See PMID:26028457 for a description of three of the patients (one with epilepsy).Created: 13 Nov 2018, 11:36 a.m.
PMID:26028457 (Liu et al 2016) report 3 unrelated Chinese patients with severe psychomotor retardation, hypotonia, dystonia and athetoid movements, and homozygous/compound het variants in SUCLG1. Patient 2 had Epilepsy (Table 1).Created: 13 Nov 2018, 11:35 a.m.
PMID:27484306 (Donti et al. 2016) report EEG abnormalities in 17 of 19 patients with SUCLG1 variants. No further seizure information is given.Created: 13 Nov 2018, 11:34 a.m.
Seizures are part of the phenotype of this mitochondrial disorder.Created: 22 Aug 2018, 5:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SUCLG1.
Source NHS GMS was added to SUCLG1.
Zornitza Stark: Seizures are part of the pheno
Tag watchlist tag was added to gene: SUCLG1.
Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Publications for gene: SUCLG1 were set to 28358460; 27143079; 26028457; 27484306
Publications for gene: SUCLG1 were set to
Mode of inheritance for gene: SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Expert Review Amber was added to SUCLG1. Panel: Genetic Epilepsy Syndromes
SUCLG1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
SUCLG1 was created by Sarah Leigh