First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.

doi:10.1007/s10048-025-00835-6

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Article

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.

Neurogenetics - 11 Aug 2025

Perera B Lakshitha A, Stewart Russell, Furuta Yutaka, Ezell Kimberly M, Rives Lynette, Nunley Bethany, McMinn Ashley, Krokosky Alyson, Neumann Serena, Koziura Mary E, Hamid Rizwan, Cogan Joy D, Cassini Thomas A, Gamazon Eric R, Phillips Iii John A, Tinker Rory J

Abstract excerpt

Familial Adult Myoclonic Epilepsy type 3 (FAME3) is a rare autosomal dominant disorder characterized by cortical tremor and epilepsy, caused by a noncoding pentanucleotide repeat expansion (TTTTA/TTTCA)n in the MARCHF6 gene. Conventional genetic testing often fails to detect this expansion due to its repetitive structure and intronic location. We evaluated a 61-year-old woman with refractory myoclonic and...

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Identifiers

PMID: 40788430
DOI: 10.1007/s10048-025-00835-6
PMCID: PMC12339610

Genes

MARCHF6

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