Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

Trouillard, Oriane; Koht, Jeanette; Gerstner, Thorsten; Depienne, Christel; Moland, Siri; Dusart, Isabelle; Meneret, Aurelie; Ruiz, Marta; Dubacq, Caroline; Roze, Emmanuel

Background: Autosomal dominant congenital mirror movements (CMM) is a neurodevelopmental disorder characterized by early onset involuntary movements of one side of the body that mirror intentional movements on the contralateral side; these persist throughout life in the absence of other neurological symptoms. The main culprit genes responsible for this condition are RAD51 and DCC. This condition has only been reported in a few families, and the molecular mechanisms linking RAD51 mutations and mirror movements (MM) are poorly understood.

Methods: We collected demographic, clinical, and genetic data of a new family with CMM due to a truncating mutation of RAD51. We reviewed the literature to identify all reported patients with CMM due to RAD51 mutations.

Results: We identified a heterozygous nonsense mutation c.760C>T (p.Arg254∗) in eight subjects: four with obvious and disabling MM, and four with a mild phenotype. Including our new family, we identified 32 patients from 6 families with CMM linked to RAD51 variants.

Discussion: Our findings further support the involvement of RAD51 in CMM pathogenesis. Possible molecular mechanisms involved in CMM pathogenesis are discussed.


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Tremor and Other Hyperkinetic Movements

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
The Center for Digital Research and Scholarship
Published Here
November 7, 2016