|Number of repeats||Counts (alleles)||Percentage|
Overview of repeats
The expansion of inserted repeats of ATTTC in the intron 1 in the STARD7 gene causes familial adult myoclonic epilepsy type 2 (FAME2) disease, as reported by Corbett et al. (2019). In affected individuals, a long stretch of AAATG in conjunction with AAAAT repeats was found in all cases. The pathogenic configuration was defined as: (AAATG)exp(AAAAT)exp. By using two different types of long-read sequencing, they analysed the region in two patients. In one of them, 274 repeats of AAATG and 387 repeats of AAAAT was determined using one method whereas with the other method, they determined 345 repeats of AAATG and 390 repeats of AAAAT. The second patient had 558 AAATG and 340 AAAAT repeats. None of the control samples had any repeats of the pathogenic AAATG motif (Corbett et al., 2019).