Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Date

2020

Authors

Bennett, M.F.
Oliver, K.L.
Regan, B.M.
Bellows, S.T.
Schneider, A.L.
Rafehi, H.
Sikta, N.
Crompton, D.E.
Coleman, M.
Hildebrand, M.S.

Editors

Advisors

Journal Title

Journal ISSN

Volume Title

Type:

Journal article

Citation

European Journal of Human Genetics, 2020; 28(7):973-978

Statement of Responsibility

Mark F. Bennett, Karen L. Oliver, Brigid M. Regan, Susannah T. Bellows ... Mark Corbett ... Jozef Gecz ... at al.

Conference Name

DOI

10.1038/s41431-020-0606-z

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.

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Dissertation Note

Provenance

Description

Published: 16 March 2020

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Rights

© European Society of Human Genetics 2020

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Grant ID

http://purl.org/au-research/grants/nhmrc/1155224
 http://purl.org/au-research/grants/nhmrc/1091593
 http://purl.org/au-research/grants/nhmrc/GNT1102971
 http://purl.org/au-research/grants/nhmrc/1079058
 http://purl.org/au-research/grants/nhmrc/1063799
 http://purl.org/au-research/grants/nhmrc/1104831
 http://purl.org/au-research/grants/nhmrc/1129054

Published Version

https://doi.org/10.1038/s41431-020-0606-z

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Persistent link to this record

http://hdl.handle.net/2440/124588