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

Oriane Trouillard , Jeanette Koht , Thorsten Gerstner , Siri Moland , Christel Depienne , Isabelle Dusart (1) , Aurélie Méneret , Marta Ruiz , Caroline Dubacq , Emmanuel Roze

1 NPS-14 - Développement et plasticité des réseaux neuronaux = Development and Plasticity of Neural Networks

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\textgreaterT (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.

Domaines: Neurosciences [q-bio.NC]

Oriane Trouillard, Jeanette Koht, Thorsten Gerstner, Siri Moland, Christel Depienne, et al.. Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature. Tremor and Other Hyperkinetic Movements (New York, N.Y.), 2016, 6, pp.424. ⟨10.7916/D8BK1CNF⟩. ⟨hal-01543619⟩