Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
| Autor: | Patra Yeetong, Nath Pasutharnchat, Vorasuk Shotelersuk, Monnat Pongpanich, Melanie Bahlo, Chaipat Chunharas, Kanya Suphapeetiporn, Chalurmpon Srichomthong, Mark F. Bennett |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Benign adult familial myoclonic epilepsy Genetic Linkage Epilepsies Myoclonic Nerve Tissue Proteins Locus (genetics) Biology Brief Communication Polymerase Chain Reaction Young Adult Asian People Genetics Humans Genetics (clinical) Whole Genome Sequencing Haplotype Intron Thailand Common ancestry Founder Effect Introns Pedigree Haplotypes Microsatellite Female Microsatellite Repeats SNP array Founder effect |
| Zdroj: | Eur J Hum Genet |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/s41431-020-00729-1 |
| Popis: | Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. Microsatellite studies suggested a linkage to the BAFME1 region on chromosome 8q24. Subsequently, long-read whole-genome sequencing showed the (TTTTA)(446)(TTTCA)(149) in intron 4 of SAMD12 in an affected member. Repeat-primed PCR and long-range PCR revealed that the pentanucleotide repeat expansions segregated with the disease status. Our Thai family is the first non-Japanese and non-Chinese family with BAFME1. SNP array showed that the aberrant repeats had the same haplotype as those previously determined in Japanese and Chinese patients suggesting a common ancestry. The variant is estimated to arise ~12,000 years ago. |
| Databáze: | OpenAIRE |
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