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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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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8BK1CNF

More About This Work

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