GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders
Yu Fan1, Si Shen1, Jing Yang1,2,3
1Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China.
Annals of Neurology
|February 13, 2022
Summary
CGG repeat expansion in GIPC1 is linked to movement disorders and intranuclear inclusions. This finding suggests a potential new disease mechanism for neurological conditions.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- CGG/GGC repeat expansions in FMR1 and NOTCH2NLC are associated with movement disorders.
- Previous research identified CGG repeat expansions in LRP12, NUTM2B-AS1, and GIPC1 in myopathy patients.
Purpose of the Study:
- To investigate the association between CGG repeat expansions in LRP12, NUTM2B-AS1, and GIPC1 and movement disorder phenotypes.
- To determine the prevalence of these expansions in patients with movement disorders compared to healthy controls.
Main Methods:
- Screening for CGG repeat expansions in LRP12, NUTM2B-AS1, and GIPC1 in 1,346 movement disorder patients and 1,451 healthy controls.
- Clinical phenotyping of patients with identified GIPC1 CGG repeat expansions.
Main Results:
- No expanded repeats were found in LRP12 or NUTM2B-AS1.
- Sixteen movement disorder patients (approximately 1%) had expanded GIPC1 CGG repeats (>40 repeats), with 11 having >60 repeats.
- GIPC1 expansion was associated with movement disorders, white-matter hyperintensities, cognitive deficits, and intranuclear inclusions, resembling NOTCH2NLC repeat expansion disorders.
Conclusions:
- CGG repeat expansion in GIPC1 is associated with movement disorder phenotypes.
- This expansion may lead to diseases characterized by intranuclear inclusions.
- GIPC1 repeat expansion represents a potential novel genetic cause for movement disorders.
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