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RAD51 has been proposed as an autosomal dominant contributor to isolated congenital mirror movements (MMs), a rare axonal guidance disorder characterized by involuntary contralateral motor mimicry of intentional movements. One report described a boy with mirror movements and incomitant strabismus consistent with cranial dysinnervation, noting that mutations in RAD51 or DCC can underlie isolated congenital MMs (PMID:25838174). In a separate four-generation Italian family with MMs (HP:0001335), sequencing of RAD51 and DCC in ten affected individuals failed to identify pathogenic variants, and segregation analysis was not informative for RAD51 (PMID:30713853).
Current evidence for RAD51 in familial congenital mirror movements is limited to anecdotal case descriptions without variant-level or segregation confirmation. No functional or experimental studies have assessed RAD51 variant impact in the context of MMs. Additional reports of segregating RAD51 mutations, complemented by in vitro or in vivo modeling, are needed to establish a definitive gene-disease relationship.
Gene–Disease AssociationLimitedInherited autosomal dominant signal in one proband and one family without identified RAD51 variants; no segregation or variant-level data. Genetic EvidenceLimitedOnly anecdotal mention of RAD51 mutations in isolated cases with mirror movements; no pathogenic variants reported. Functional EvidenceNo evidenceNo functional assays or experimental models link RAD51 variants to congenital mirror movements. |