Epilepsy, Familial Adult Myoclonic, 6 (TNRC6A)
| Dred_ID | RD00062 |
| OMIM ID | 618074 |
| Disease name | Epilepsy, Familial Adult Myoclonic, 6 |
| Alternative names | FAME6 BAFME6 |
| Category | Genetic diseases, Rare diseases, Metabolic diseases |
| Phenotype | Familial adult myoclonic epilepsy is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline. |
| Miscellaneouse | adult onset electrophysiologic studies indicate cortical origin of the tremor nonprogressive or slowly progressive course one japanese family has been reported |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | TNRC6A |
| Alias symbols | GW1; GW182; TNRC6; CAGH26 |
| Gene name | Trinucleotide repeat containing 6A |
| Gene map locus | 16p12.1; chr16:24,610,205-24,827,632(+) |
| Ensembl Gene ID | ENSG00000090905 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008] |
| Repeat unit | TTTCA/TTTTA |
| Normal repeat copies | 22-120(TTTTA) |
| Pathogenic repeat copies | ≥28 |
| Gene | TNRC6A |
| Repeat location | intron |
| Chromosome locus | chr16:24613430-24613537 (+) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | The mutation was found by searching for repeat motifs using data from whole-genome sequence analysis and Southern blot analysis after a similar repeat expansion was identified in the SAMD12 gene (618073) in patients with FAME1. Functional studies of the TNRC6A variant and studies of patient cells were not performed, but based on studies with SAMD12, Ishiura et al. (2018) postulated that the expression of RNA molecules containing expansions of UUUCA and UUUUA repeats per se is involved in the pathogenesis of the disorder, rather than altered physiologic function of each individual gene. [By OMIM] |
| Pathway annotation | Reactome, KEGG |
| PMID | 29507423 |
| Authors | Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji. |
| Title | Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy |
| Journal | Nature Genetics |
| Year | 2018 |