SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago
- Author(s)
- Grinton, BE; Ellis, CA; Parnes, M; Stripe, LL; Munro, JE; Mazzola, L; McDonnell, PP; Baykan, B; Taşdemir, V; Hull, M; Sully, K; Cabet, S; Lehesjoki, AE; Bebek, N; Bahlo, M; Berkovic, SF; Lesca, G; Oliver, KL;
- Journal Title
- Movement DIsorders
- Publication Type
- Sep 18
- Abstract
- BACKGROUND: SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry. OBJECTIVES: We sought to refine the SLC7A6OS-PME phenotype and determine whether all families inherited the variant from the same common ancestor. METHODS: Clinical and genotyping data were obtained from all five families. Haplotype analysis using single nucleotide polymorphism arrays to investigate a possible common ancestor was performed. RESULTS: Shared haplotypes suggest all five families inherited the SLC7A6OS variant from a common ancestor approximately 1100 years ago. Subsequent dating estimates were consistent with migration patterns between the eastern Mediterranean, Iberia, and Puerto Rico. CONCLUSIONS: Our findings strengthen the previous evidence for SLC7A6OS as a cause of PME and highlight a founder effect in regions with migratory links to Iberia. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
- Publisher
- Wiley
- Research Division(s)
- Genetics and Gene Regulation
- PubMed ID
- 42757560
- Publisher's Version
- https://doi.org/10.1002/mds.70516
- Open Access at Publisher's Site
https://doi.org/10.1002/mds.70516- Terms of Use/Rights Notice
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Creation Date: 2026-10-02 08:18:56
Last Modified: 2026-10-02 08:19:08