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Title: Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Austin Authors: Bennett, Mark F ;Oliver, Karen L;Regan, Brigid M;Bellows, Susannah T;Schneider, Amy L ;Rafehi, Haloom;Sikta, Neblina;Crompton, Douglas E;Coleman, Matthew;Hildebrand, Michael S ;Corbett, Mark A;Kroes, Thessa;Gecz, Jozef;Scheffer, Ingrid E ;Berkovic, Samuel F ;Bahlo, Melanie
Affiliation: The Florey Institute, Parkville, VIC, 3052, Australia
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia
Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, VIC, 3052, Australia
Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia
Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3052, Australia
Neurology Department, Northern Health, Melbourne, VIC, 3076, Australia
South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia
Issue Date: Jul-2020
Date: 2020-03-16
Publication information: European journal of human genetics : EJHG 2020; 28(7): 973-978
Abstract: Familial adult myoclonic epilepsy 1 (FAME1), first recognised in Japanese families, was recently shown to be caused by a TTTCA repeat insertion in intron 4 of SAMD12 on chromosome 8. We performed whole genome sequencing on two families with FAME, one of Sri Lankan origin and the other of Indian origin, and identified a TTTCA repeat insertion in SAMD12 in both families. Haplotype analysis revealed that both families shared the same core ancestral haplotype reported in Japanese and Chinese families with FAME1. Mutation dating, based on the length of shared haplotypes, estimated the age of the ancestral haplotype to be ~670 generations, or 17,000 years old. Our data extend the geographic range of this repeat expansion to Southern Asia and potentially implicate an even broader regional distribution given the age of the variant. This finding suggests patients of Asian ancestry with suspected FAME should be screened for the SAMD12 TTTCA expansion.
DOI: 10.1038/s41431-020-0606-z
ORCID: 0000-0002-3561-6804
Journal: European journal of human genetics : EJHG
PubMed URL: 32203200
Type: Journal Article
Appears in Collections:Journal articles

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