Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
- Author(s)
- Yeetong, P; Chunharas, C; Pongpanich, M; Bennett, MF; Srichomthong, C; Pasutharnchat, N; Suphapeetiporn, K; Bahlo, M; Shotelersuk, V;
- Journal Title
- European Journal of Human Genetics
- Publication Type
- Journal epub ahead of print
- Abstract
- 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.
- Publisher
- NPG
- Research Division(s)
- Population Health And Immunity
- PubMed ID
- 32973343
- Publisher's Version
- https://doi.org/10.1038/s41431-020-00729-1
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2020-10-02 02:01:51
Last Modified: 2020-10-02 02:45:37