STRs database » RAI1 locus

Gene	RAI1
Location	Intron in 17p11.2
Reference region	chr17:17808359-17808457 (hg38) chr17:17711673-17711771 (hg19) chr17:17754955-17755050 (hs1)
Repeat unit	TTTCA
Repeat type	Nested

Distribution of repeats in a superpopulation

Population data for this locus is not available yet.

→ View repeat distributions in gnomAD database

Overview of repeats

Yeetong et al. (2024) identified intronic TTTTA expansions with inserted TTTCA repeats in a large Malian family with 10 affected members with familial adult myoclonic epilepsy, designated FAME8. The insertion co-segregated with disease and TTTCA repeats were absent from 200 Malian controls. The authors observed somatic instability and a read containing nine TTTCA units, and found no reduction in RAI1 RNA levels in the six affected individuals tested. The nine-unit observation was within a mosaic expanded array and does not establish a minimum for an isolated TTTCA tract.

Disease(s) and range of repeats

Disease	Onset	Inheritance	Normal	Intermediate	Pathogenic
Familial adult myoclonic epilepsy 8 (FAME8)	7-68 years in discovery family	Autosomal dominant	0	-	≥9