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A single patient with progressive ptosis, external ophthalmoplegia, facial and pharyngeal weakness, and distal limb involvement was found to harbor 126 CGG repeat expansions in the noncoding region of RILPL1, consistent with OPDM4 (PMID:40084170). Electromyography revealed myogenic damage and muscle biopsy showed rimmed vacuoles, with no cardiac or central nervous system involvement.
The evidence is currently limited to this one proband with no reported familial segregation or additional cases, supporting a Limited gene–disease association. Genetic evidence remains limited to the single CGG expansion event without replication. Functional studies specific to the pathogenic mechanism of RILPL1 repeat expansions in OPDM4 are lacking, although RILPL1 is known to mediate lysosomal trafficking in other disease contexts. No conflicting reports have been described. Key Take-home: CGG repeat expansions in RILPL1 are a plausible but preliminary cause of OPDM4, warranting further case series and mechanistic studies for diagnostic application.
Gene–Disease AssociationLimitedSingle proband with 126 CGG repeat expansion in RILPL1 (PMID:40084170); no segregation or replication. Genetic EvidenceLimitedOne individual with noncoding CGG repeat expansion in RILPL1 leading to OPDM4; no familial segregation. Functional EvidenceLimitedNo direct functional assays of RILPL1 CGG repeat expansions in OPDM4; existing data in other contexts not directly related. |