SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago.

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.