TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
| Autor: | Monnat Pongpanich, Chalurmpon Srichomthong, Nithiphut Tantirukdham, Chaipat Chunharas, Vorasuk Shotelersuk, Varote Shotelersuk, Kanya Suphapeetiporn, Adjima Assawapitaksakul, Patra Yeetong |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Benign adult familial myoclonic epilepsy medicine.medical_specialty Chromosomal Proteins Non-Histone Epilepsies Myoclonic Biology Polymerase Chain Reaction Genome 03 medical and health sciences Epilepsy 0302 clinical medicine Molecular genetics medicine Humans Genetics DNA Repeat Expansion Molecular pathology Intron High-Throughput Nucleotide Sequencing Chromosome DNA Thailand medicine.disease Introns Pedigree 030104 developmental biology DNA Transposable Elements Myoclonic epilepsy Neurology (clinical) 030217 neurology & neurosurgery Microsatellite Repeats |
| Zdroj: | Brain. 142:3360-3366 |
| ISSN: | 1460-2156 0006-8950 |
| DOI: | 10.1093/brain/awz267 |
| Popis: | Epilepsy is a common neurological disorder and identification of its causes is important for a better understanding of its pathogenesis. We previously studied a Thai family with a type of epilepsy, benign adult familial myoclonic epilepsy type 4 (BAFME4), and localized its gene to chromosome 3q26.32-q28. Here, we used single-molecule real-time sequencing and found expansions of TTTTA and insertions of TTTCA repeats in intron 1 of YEATS2 in one affected member of the family. Of all the available members in the family-comprising 13 affected and eight unaffected-repeat-primed PCR and long-range PCR revealed the co-segregation of the TTTCA repeat insertions with the TTTTA repeat expansions and the disease status. For 1116 Thai control subjects, none were found to harbour the TTTCA repeats while four had the TTTTA repeat expansions. Therefore, our findings suggest that BAFME4 is caused by the insertions of the intronic TTTCA repeats in YEATS2. Interestingly, all four types of BAFMEs for which underlying genes have been found (BAFMEs 1, 4, 6 and 7) are caused by the same molecular pathology, suggesting that the insertions of non-coding TTTCA repeats are involved in their pathogenesis. |
| Databáze: | OpenAIRE |
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