Abstract
Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external ophthalmoplegia and weakness of the facial, pharyngeal and distal limb muscles. Recently, CGG repeat expansion mutations in three genes, LRP12, GIPC1 and NOTCH2NLC, have been identified as causative factors for OPDM. Here, we report clinicopathologically typical familial OPDM patients from southwestern China. CGG repeat expansions in GIPC1 were detected in two OPDM-affected individuals. Our study was the first GIPC1-OPDM report from southwestern China, further confirming expanded GGC repeats in GIPC1 as the cause of OPDM.
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Data availability
The original data of the current study are available from the corresponding author on reasonable request.
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Acknowledgements
We thanked all the subjects of the family who participated in this study. We also thanked Chigene (Bei**g) Translational Medical Research Center Co. Ltd for molecular genetic testing.
Funding
This study was supported by the platform of resource collection and standardized diagnosis and treatment for neurogenetic degeneration diseases (2019JDPT0015), Post-Doctor Research Project, West China Hospital, Sichuan University (2020HXBH145) and key research and development projects, Department of Science and Technology of Sichuan province (2021YFS0223), which provided financial support for the conduct of the research, collection of data, preparation and submission of the article for publication.
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RA collected clinical data and drafted the manuscript. HC handled muscle specimens and analyzed the pathological results. WG designed and conducted the molecular genetic experiments. CH, YX designed research project and revised the manuscript. All authors have read and approved the manuscript.
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The present study was approved by the Ethics Committee of West China Hospital of Sichuan University (2020–842).
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An, R., Chen, H., Gu, W. et al. Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China. Neurol Sci 43, 3989–3993 (2022). https://doi.org/10.1007/s10072-022-06005-y
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DOI: https://doi.org/10.1007/s10072-022-06005-y