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. 2016 Nov 3:6:424.
doi: 10.7916/D8BK1CNF. eCollection 2016.

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

Oriane Trouillard  1 , Jeanette Koht  2 , Thorsten Gerstner  3 , Siri Moland  4 , Christel Depienne  5 , Isabelle Dusart  6 , Aurélie Méneret  7 , Marta Ruiz  8 , Caroline Dubacq  6 , Emmanuel Roze  7
Affiliations

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

Oriane Trouillard et al. Tremor Other Hyperkinet Mov (N Y). .

Abstract

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.

Keywords: Mirror movement; RAD51; corpus callosum; corticospinal tract; motor control; neurodevelopment.

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Conflict of interest statement

Funding: We thank Merz-pharmaceuticals and the Vestre Viken Hospital Trust (JK) for financial support of this study. Conflict of Interest: The authors report no conflict of interest related to this paper. Ethics statement: Written informed consent was obtained from all included family members in accordance with the ethical agreement 2012/1451 of the Regional Ethical Committee in Norway. This study was performed in accordance with the ethical standards detailed in the Declaration of Helsinki. The authors’ institutional ethics committee has approved this study and all patients have provided written informed consent. All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided.

Figures

Figure 1
Figure 1. Identification of the R254* Mutation in the Norwegian Family. (A) Segregation of the mutation. Black symbols represent individuals with strong congenital mirror movements, and gray symbols represent individuals with mild congenital mirror movements. Circles indicate females; squares, males; symbols with a diagonal line, deceased; m: mutated allele, +: wild-type allele. (B) Sequence profile of the mutation in the heterozygous state in a congenital mirror movement patient compared with an unaffected subject. The red arrow points to sequence changes; electrophoregrams were obtained with SeqScape software (v2.6, Applied Biosystems).
See this image and copyright information in PMC

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