Epilepsy, Familial Adult Myoclonic, 4 (YEATS2)
| Dred_ID | RD00061 |
| OMIM ID | 615127 |
| Disease name | Epilepsy, Familial Adult Myoclonic, 4 |
| Alternative names | FAME4 |
| Category | Genetic diseases, Rare diseases, Metabolic diseases |
| Phenotype | UniProtKB/Swiss-Prot: A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME4 inheritance is autosomal dominant. MalaCards based summary: Epilepsy, Familial Adult Myoclonic, 4, also known as fcmte4, is related to tonsil squamous cell carcinoma. An important gene associated with Epilepsy, Familial Adult Myoclonic, 4 is YEATS2 (YEATS Domain Containing 2), and among its related pathways/superpathways are Apoptotic cleavage of cellular proteins and Cell cycle_Chromosome condensation in prometaphase. Related phenotypes are tremor and myoclonus. |
| Miscellaneouse | nonprogressive course young-adult onset onset of tremor usually before onset of seizures anticonvulsants are effective one family of thai origin has been reported |
| Prevalence | an estimated prevalence of 1/35,000 was reported in Japan [source: MalaCards] |
| Inheritance | Autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | YEATS2 |
| Alias symbols | FAME4 |
| Gene name | YEATS domain containing 2 |
| Gene map locus | 3q27.1; chr3:183,697,797-183,812,625(+) |
| Ensembl Gene ID | ENSG00000163872 |
| 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 | The protein encoded by this gene is a scaffolding subunit of the ATAC complex, which is a complex with acetyltransferase activity on histones H3 and H4. Alternative splicing results in multiple transcript variants encoding different isoforms. |
| Repeat unit | TTTCA/TTTTA |
| Normal repeat copies | 7-400(TTTTA) |
| Pathogenic repeat copies | ≥201 |
| Gene | YEATS2 |
| Repeat location | intron |
| Chromosome locus | chr3:183712192-183712228 (+) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | Yeetong et al. (2019) concluded that the (TTTCA)n repeat is pathogenic. The repeats were flanked by Alu sequences, suggesting that this genomic structure may be a contributing factor. Functional studies of the variant and studies of patient cells were not performed, but the authors postulated a toxic RNA effect. |
| Pathway annotation | Reactome, KEGG |
| PMID | 31539032 |
| Authors | Patra Yeetong, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, et al |
| Title | TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4 |
| Journal | Brain |
| Year | 2019 |