Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy

Oculopharyngodistal myopathy (OPDM) is a rare neuromuscular disease characterized by progressive ptosis, ophthalmoparesis, facial/bulbar and distal weakness. CGG repeat expansions in the 5’ untranslated region of LRP12, GIPC1, NOTCH2NLC and RILPL1 have been reported to cause OPDM. In this study, we identified CGG repeat expansion in the long non-coding RNA of LOC642361/NUTM2B-AS1 in 2 unrelated cases in a cohort of 94 unrelated OPDM patients. Both patients showed no leukoencephalopathy but one showed mild cognitive impairment. Muscle pathology revealed rimmed vacuoles and p62-positive intranuclear inclusions. Colocalization of CGG RNA foci with p62 was also found in the intranuclear inclusions of patient-derived fibroblasts. (By Drs. Zhaoxia Wang and Jianying Xi, on behalf of the authors, https://jmg.bmj.com/content/early/2023/11/03/jmg-2023-109345 )

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