STRs database » GIPC1 locus
Gene GIPC1
Location 5′ UTR in 19p13.12
Reference region chr19:14496041-14496074 (hg38)
chr19:14606853-14606886 (hg19)
Repeat unit GGC
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Oculopharyngodistal myopathy (OPDM) is a rare neuromuscular disease and around 200 affected individuals have been found to date since 1977 (Deng et al., 2020). The article by Ishiura and colleagues investigating repeats in the LRP12 gene was shortly followed by another study conducted by Deng et al. (2020) that examined Chinese and Japanese individuals. In these patients, repeat expansions in the 5′ UTR of the GIPC1 gene was discovered and this was associated with OPDM as well, followed by naming the disease as type 2 (OPDM2). In 12 out of 24 affected individuals from Chinese cohort and 7 out of 194 patients from Japanese cohort had expansions in the GIPC1 gene, ranging from 88-164 for the Chinese and 73-161 for the Japanese cohort. No expansions were detected in any of the controls. The range of GGC repeats in 550 control subjects was determined to be between 12-32 (Deng et al., 2020).
In the same research, it was suggested that expansions in two different genes could cause OPDM through shared pathogenesis. Interestingly, one unaffected individual with over 500 GGC repeats in 5′ UTR of the GIPC1 gene was discovered, whose both offspring, with 117 and 113 repeats, were symptomatic. That raises a possibility where a certain range of repeats can cause a disease, similarly to CGG repeats in the FMR1 gene whereby 55-199 repeats causes FXTAS while 200 and more repeats results in FXS. More research is needed to confirm this (Deng et al., 2020).

→ View STRipy's population-wide repeat data for GIPC1 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Oculopharyngodistal myopathy 2 (OPDM2) Adult Autosomal dominant 12-32 - ≥73