STRs database » RILPL1 locus

Overview of repeats

Oculopharyngodistal myopathy 4 (OPDM4) is an adult-onset muscle disease. In 2022, two papers were published (Yu et al. (2022) and Zeng et al. (2022)), both of which reported an expanded GGC allele in OPDM4 patients. The expansion was found in the 5' UTR of the RILPL1 gene.
Yu and colleagues found a CGG expansion in the RILPL1 gene in two unrelated OPDM-affected individuals and determined this as a causative mutation of OPDM4. Next, they analysed 20 other OPDM-affected individuals with unknown genetic cause and found another nine individuals with a similar expansion. The expansions in all eleven OPDM-affected individuals ranged from 139 to 197 repeats. Finally, by analysing 200 normal controls (Chinese) they determined the normal length of CGG repeats in this cohort to be between 9 to 16 repeats (Yu et al. (2022)).
Similarly, Zeng and colleagues found CGG repeat expansion in six patients from two unrelated Chinese Han families who had typical OPDM phenotype. Repeats in those patients ranged from 135 to 190 repeats, being in line with the paper published by Yu et al. The normal distribution of CGG repeats was between 10 and 17 in 465 controls (Chinese) and 4-20 in individuals from the 1000 Genomes Project (Zeng et al. (2022)).

Segregation was further demonstrated by Yang et al. (2023) in a five-generation family with 21 individuals diagnosed with OPDM; tested affected relatives carried 120-177 CGG repeats, whereas unaffected relatives had nine repeats. In 1000 unaffected Chinese controls, the range was 6-16 repeats. Wang et al. (2025) subsequently described an affected patient with 126 CGG repeats, below the lengths reported in the original 2022 studies but within the range reported by Yang et al. (2023).

→ View STRipy's population-wide repeat data for RILPL1 locus