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Title: Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.
Austin Authors: Yeetong, Patra;Chunharas, Chaipat;Pongpanich, Monnat;Bennett, Mark F ;Srichomthong, Chalurmpon;Pasutharnchat, Nath;Suphapeetiporn, Kanya;Bahlo, Melanie;Shotelersuk, Vorasuk
Affiliation: Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok, 10330, Thailand..
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia
Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3052, Australia
Epilepsy Research Centre
Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Chulalongkorn Cognitive, Clinical & Computational Neuroscience, Chulalongkorn University, Bangkok, Thailand..
Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, 10330, Thailand..
Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand..
Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand..
Issue Date: 2021 2020-09-24
Publication information: European journal of human genetics : EJHG 2021; 29(2): 343-348
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.
DOI: 10.1038/s41431-020-00729-1
ORCID: 0000-0003-3228-3351
PubMed URL: 32973343
Type: Journal Article
Appears in Collections:Journal articles

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