Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

作者: Nicolas Lebrun , Sébastien Lebon , Pierre-Yves Jeannet , Sébastien Jacquemont , Pierre Billuart

DOI: 10.1002/AJMG.A.37364

关键词:

摘要: … SMC1A in this patient. Our findings suggest that loss-of-function mutations of SMC1A may be associated with early-onset encephalopathy with epilepsy. © 2015 Wiley Periodicals, Inc. …

参考文章(18)
Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli, Cristina Gervasini, Donatella Milani, Silvia Russo, Paolo Vezzoni, Lidia Larizza, X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nature Genetics. ,vol. 38, pp. 528- 530 ,(2006) , 10.1038/NG1779
Cristina Gervasini, Silvia Russo, Anna Cereda, Ilaria Parenti, Maura Masciadri, Jacopo Azzollini, Daniela Melis, Teresa Aravena, Bérénice Doray, Alessandra Ferrarini, Livia Garavelli, Angelo Selicorni, Lidia Larizza, Cornelia de Lange individuals with new and recurrentSMC1Amutations enhance delineation of mutation repertoire and phenotypic spectrum American Journal of Medical Genetics Part A. ,vol. 161, pp. 2909- 2919 ,(2013) , 10.1002/AJMG.A.36252
Giuseppe Limongelli, Silvia Russo, Maria Cristina Digilio, Maura Masciadri, Giuseppe Pacileo, Fiorella Fratta, Francesca Martone, Valeria Maddaloni, Raffaella D'Alessandro, Paolo Calabro, Maria Giovanna Russo, Raffaele Calabro, Lidia Larizza, Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. American Journal of Medical Genetics Part A. ,vol. 152, pp. 2127- 2129 ,(2010) , 10.1002/AJMG.A.33486
J Liu, ID Krantz, Cornelia de Lange syndrome, cohesin, and beyond Clinical Genetics. ,vol. 76, pp. 303- 314 ,(2009) , 10.1111/J.1399-0004.2009.01271.X
Cyril Mignot, Laetitia Lambert, Laurent Pasquier, Thierry Bienvenu, Andrée Delahaye-Duriez, Boris Keren, Jérémie Lefranc, Aline Saunier, Lila Allou, Virginie Roth, Mylène Valduga, Aissa Moustaïne, Stéphane Auvin, Catherine Barrey, Sandra Chantot-Bastaraud, Nicolas Lebrun, Marie-Laure Moutard, Marie-Christine Nougues, Anne-Isabelle Vermersch, Bénédicte Héron, Eva Pipiras, Delphine Héron, Laurence Olivier-Faivre, Jean-Louis Guéant, Philippe Jonveaux, Christophe Philippe, WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation Journal of Medical Genetics. ,vol. 52, pp. 61- 70 ,(2015) , 10.1136/JMEDGENET-2014-102748
Guntram Borck, Mohamed Zarhrate, Jean-Paul Bonnefont, Arnold Munnich, Valérie Cormier-Daire, Laurence Colleaux, Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations†‡ Human Mutation. ,vol. 28, pp. 205- 206 ,(2007) , 10.1002/HUMU.9478
Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pie, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, Kaj Lillquist, Victoria Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz, Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation American Journal of Human Genetics. ,vol. 80, pp. 485- 494 ,(2007) , 10.1086/511888
Carolyn J. Brown, Andrew P. Miller, Laura Carrel, Jim L. Rupert, Kay E. Davies, Huntington F. Willard, The DXS423E gene in Xp11.21 escapes X chromosome inactivation Human Molecular Genetics. ,vol. 4, pp. 251- 255 ,(1995) , 10.1093/HMG/4.2.251
Maartje van de Vorst, Bregje W. M. van Bon, Marjolein H. Willemsen, Michael Kwint, Irene M. Janssen, Alexander Hoischen, Annette Schenck, Richard Leach, Robert Klein, Rick Tearle, Tan Bo, Rolph Pfundt, Helger G. Yntema, Bert B. A. de Vries, Tjitske Kleefstra, Han G. Brunner, Lisenka E. L. M. Vissers, Joris A. Veltman, Christian Gilissen, Jayne Y. Hehir-Kwa, Djie Tjwan Thung, Genome sequencing identifies major causes of severe intellectual disability Nature. ,vol. 511, pp. 344- 347 ,(2014) , 10.1038/NATURE13394
Chloé Delépine, Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly, Thierry Bienvenu, MeCP2 deficiency is associated with impaired microtubule stability FEBS Letters. ,vol. 587, pp. 245- 253 ,(2013) , 10.1016/J.FEBSLET.2012.11.033