Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
29
08
2019
accepted:
03
03
2020
revised:
05
02
2020
pubmed:
24
3
2020
medline:
28
5
2021
entrez:
24
3
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32203200
doi: 10.1038/s41431-020-0606-z
pii: 10.1038/s41431-020-0606-z
pmc: PMC7316749
doi:
Substances chimiques
Nerve Tissue Proteins
0
SAMD12 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
973-978Subventions
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : GNT1102971
Pays : International
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : 1155224
Pays : International
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : 1091593
Pays : International
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