Overview of repeats

Familial adult myoclonic epilepsy type 3 (FAME3) has been recently described by Florian et al. (2019) caused by TTTCA repeat expansions that has been inserted into the intron 1 of MARCHF6 gene. By investigating four unrelated families, they determined the expansions size to be variable among patients and ranges between 3 and 14 kb, corresponding to approximately 668-2814 pentanucleotide repeats. The repeat configuration was determined to be as follows: (TTTTA)_exp(TTTCA)_exp. In their control group of 83 individuals, the endogenous repeat unit TTTTA was found to be in the range of 9-20 repeats and never expanded. No repeats of the pathogenic motif TTTCA was found in controls (Florian et al., 2019).

→ View STRipy's population-wide repeat data for MARCHF6 locus