Journal article

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

Patra Yeetong, Chaipat Chunharas, Monnat Pongpanich, Mark F Bennett, Chalurmpon Srichomthong, Nath Pasutharnchat, Kanya Suphapeetiporn, Melanie Bahlo, Vorasuk Shotelersuk

European Journal of Human Genetics | SPRINGERNATURE | Published : 2020

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 repe..

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Grants

Awarded by Thailand Research Fund


Awarded by Australian National Health and Medical Research Council (NHMRC) Senior Research Fellowship


Funding Acknowledgements

This research was supported by the Thailand Research Fund (MRG6080186 and DPG6180001), Grants for Development of New Faculty Staff, Ratchadaphiseksomphot Endowment Fund, Chulalongkorn University and Health Systems Research Institute. MB was supported by an Australian National Health and Medical Research Council (NHMRC) Senior Research Fellowship (GNT1102971). This work was made possible through Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS.