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Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

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Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. / Méneret, Aurélie; Depienne, Christel; Riant, Florence; Trouillard, Oriane; Bouteiller, Delphine; Cincotta, Massimo; Bitoun, Pierre; Wickert, Julia; Lagroua, Isabelle; Westenberger, Ana; Borgheresi, Alessandra; Doummar, Diane; Romano, Marcello; Rossi, Simone; Defebvre, Luc; De Meirleir, Linda; Espay, Alberto J; Fiori, Simona; Klebe, Stephan; Quélin, Chloé; Rudnik-Schöneborn, Sabine; Plessis, Ghislaine; Dale, Russell C; Sklower Brooks, Susan; Dziezyc, Karolina; Pollak, Pierre; Golmard, Jean-Louis; Vidailhet, Marie; Brice, Alexis; Roze, Emmanuel.

In: NEUROLOGY, Vol. 82, No. 22, 03.06.2014, p. 1999-2002.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Méneret, A, Depienne, C, Riant, F, Trouillard, O, Bouteiller, D, Cincotta, M, Bitoun, P, Wickert, J, Lagroua, I, Westenberger, A, Borgheresi, A, Doummar, D, Romano, M, Rossi, S, Defebvre, L, De Meirleir, L, Espay, AJ, Fiori, S, Klebe, S, Quélin, C, Rudnik-Schöneborn, S, Plessis, G, Dale, RC, Sklower Brooks, S, Dziezyc, K, Pollak, P, Golmard, J-L, Vidailhet, M, Brice, A & Roze, E 2014, 'Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases', NEUROLOGY, vol. 82, no. 22, pp. 1999-2002. https://doi.org/10.1212/WNL.0000000000000477

APA

Méneret, A., Depienne, C., Riant, F., Trouillard, O., Bouteiller, D., Cincotta, M., Bitoun, P., Wickert, J., Lagroua, I., Westenberger, A., Borgheresi, A., Doummar, D., Romano, M., Rossi, S., Defebvre, L., De Meirleir, L., Espay, A. J., Fiori, S., Klebe, S., ... Roze, E. (2014). Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. NEUROLOGY, 82(22), 1999-2002. https://doi.org/10.1212/WNL.0000000000000477

Vancouver

Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M et al. Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. NEUROLOGY. 2014 Jun 3;82(22):1999-2002. https://doi.org/10.1212/WNL.0000000000000477

Bibtex

@article{ae8c7cec68294e13a9078d6715b46741,
title = "Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases",
abstract = "OBJECTIVE: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51.METHODS: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server.RESULTS: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC).CONCLUSION: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered.",
keywords = "Carrier Proteins, Codon, Nonsense, DNA Mutational Analysis, Humans, Movement Disorders, Mutation, Mutation, Missense, Pedigree, Receptors, Cell Surface, Severity of Illness Index, Tumor Suppressor Proteins",
author = "Aur{\'e}lie M{\'e}neret and Christel Depienne and Florence Riant and Oriane Trouillard and Delphine Bouteiller and Massimo Cincotta and Pierre Bitoun and Julia Wickert and Isabelle Lagroua and Ana Westenberger and Alessandra Borgheresi and Diane Doummar and Marcello Romano and Simone Rossi and Luc Defebvre and {De Meirleir}, Linda and Espay, {Alberto J} and Simona Fiori and Stephan Klebe and Chlo{\'e} Qu{\'e}lin and Sabine Rudnik-Sch{\"o}neborn and Ghislaine Plessis and Dale, {Russell C} and {Sklower Brooks}, Susan and Karolina Dziezyc and Pierre Pollak and Jean-Louis Golmard and Marie Vidailhet and Alexis Brice and Emmanuel Roze",
note = "{\textcopyright} 2014 American Academy of Neurology.",
year = "2014",
month = jun,
day = "3",
doi = "10.1212/WNL.0000000000000477",
language = "English",
volume = "82",
pages = "1999--2002",
journal = "NEUROLOGY",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "22",

}

RIS

TY - JOUR

T1 - Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

AU - Méneret, Aurélie

AU - Depienne, Christel

AU - Riant, Florence

AU - Trouillard, Oriane

AU - Bouteiller, Delphine

AU - Cincotta, Massimo

AU - Bitoun, Pierre

AU - Wickert, Julia

AU - Lagroua, Isabelle

AU - Westenberger, Ana

AU - Borgheresi, Alessandra

AU - Doummar, Diane

AU - Romano, Marcello

AU - Rossi, Simone

AU - Defebvre, Luc

AU - De Meirleir, Linda

AU - Espay, Alberto J

AU - Fiori, Simona

AU - Klebe, Stephan

AU - Quélin, Chloé

AU - Rudnik-Schöneborn, Sabine

AU - Plessis, Ghislaine

AU - Dale, Russell C

AU - Sklower Brooks, Susan

AU - Dziezyc, Karolina

AU - Pollak, Pierre

AU - Golmard, Jean-Louis

AU - Vidailhet, Marie

AU - Brice, Alexis

AU - Roze, Emmanuel

N1 - © 2014 American Academy of Neurology.

PY - 2014/6/3

Y1 - 2014/6/3

N2 - OBJECTIVE: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51.METHODS: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server.RESULTS: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC).CONCLUSION: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered.

AB - OBJECTIVE: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51.METHODS: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server.RESULTS: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC).CONCLUSION: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered.

KW - Carrier Proteins

KW - Codon, Nonsense

KW - DNA Mutational Analysis

KW - Humans

KW - Movement Disorders

KW - Mutation

KW - Mutation, Missense

KW - Pedigree

KW - Receptors, Cell Surface

KW - Severity of Illness Index

KW - Tumor Suppressor Proteins

U2 - 10.1212/WNL.0000000000000477

DO - 10.1212/WNL.0000000000000477

M3 - SCORING: Journal article

C2 - 24808016

VL - 82

SP - 1999

EP - 2002

JO - NEUROLOGY

JF - NEUROLOGY

SN - 0028-3878

IS - 22

ER -