Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
laboratory of biochemistry, |
RCV000714974 | SCV000844950 | pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2018-10-23 | criteria provided, single submitter | case-control | The patient fullfilled criteria for the MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like) syndrome : failure to thrive, hypotonia deafness, dystonia, and spasticity and loss of acquired skills. Brain MRI showed a major and diffuse cortical and subcortical atrophy and bilateral abnormalities of the putamen and thalami. We evidenced increased excretion of both 3-methylglutaconic acid and 3-methylglutaric acid. We identified two compound heterozygous variants in the SERAC1 gene: a pathogenic nonsense substitution : c.202C>T, (p.Arg68*), and a novel mutation at a canonical splicing site upstream exon 4 (c.129-1G>C). mRNAs sequencing of SERAC1 showed that the splice site mutation resulted in exon 3 skipping and western-blot experiments showed the absence of SERAC1 expression in the fibroblasts. |