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A recent whole‐exome sequencing study of benign essential blepharospasm identified deleterious variants in several candidate genes, including MRPL15, across 21 independent pedigrees (PMID:29770609). Although MRPL15 was implicated in at least two independent families, the overall genetic evidence remains modest with limited segregation data and few additional affected relatives to strengthen the association. The study detected MRPL15 variants alongside other genes in a cohort of 31 subjects, suggesting a potential role in disease pathogenesis but not providing extensive quantitative support. Inheritance appears to be consistent with an autosomal dominant pattern, a common mode for familial forms of blepharospasm, although confirmation awaits further studies. No distinct recurrent variant in MRPL15 met the criteria for detailed molecular description, and the available variant list does not include an HGVS string for MRPL15. Overall, while these findings mark an important step towards understanding the genetic underpinnings of benign essential blepharospasm, caution is warranted in clinical settings due to the limited level of evidence.
A preliminary functional assessment focused on other candidate genes did not directly evaluate MRPL15, and therefore no experimental data confirm a mechanistic role for MRPL15 in the disease. Consequently, functional studies for benign essential blepharospasm remain uninformative regarding MRPL15 and provide no additional support beyond the genetic observations. The lack of supporting experimental assays means that the primary evidence for the association is derived solely from genetic findings. In clinical diagnostic decision‑making, these results suggest that MRPL15 variants should be considered with caution and evaluated in the context of additional genetic and clinical evidence. Despite the current limitations, the association opens avenues for future research and potential commercial diagnostic panels. Key take‑home: Preliminary genetic findings for MRPL15 in benign essential blepharospasm underscore the need for further studies to solidify its clinical utility.
Gene–Disease AssociationLimitedMRPL15 variants were identified in at least two independent pedigrees among 21 studied, but the evidence is limited by the small number of cases and lack of extensive segregation data (PMID:29770609). Genetic EvidenceLimitedDeleterious variants in MRPL15 were observed in multiple pedigrees with benign essential blepharospasm; however, the overall quantitative evidence remains modest. Functional EvidenceNoneNo functional or experimental studies have directly assessed MRPL15 in the context of benign essential blepharospasm, limiting mechanistic support for the association. |