STRs database » MARCHF6 locus
Location Intron in 5p15.31-p15.1
Reference region chr5:10356347-10356407 (hg38)
chr5:10356459-10356519 (hg19)
chr5:10295529-10295589 (hs1)
Repeat unit TTTCA
Repeat type Nested
Distribution of repeats in a superpopulation
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

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Familial adult myoclonic epilepsy 3 (FAME3) Adult Autosomal dominant 0 - ≥668