Para acceder a los documentos con el texto completo, por favor, siga el siguiente enlace: http://hdl.handle.net/2445/119655

Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia
Sintas Vives, Cèlia; Carreño, Oriel; Fernàndez Castillo, Noelia; Corominas, Roser; Vila Pueyo, M.; Toma, Claudio; Cuenca León, Ester; Barroeta, I.; Roig, C.; Volpini Bertrán, Víctor; Macaya, A; Cormand Rifà, Bru
Universitat de Barcelona
Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α1A subunit of the P/Q-type voltage-gated calcium channel Cav2.1. The vast majority of EA2 disease-causing variants are loss-of-function (LoF) point changes leading to decreased channel currents. CACNA1A exonic deletions have also been reported in EA2 using quantitative approaches. We performed a mutational screening of the CACNA1A gene, including the promoter and 3′UTR regions, in 49 unrelated patients diagnosed with episodic ataxia. When pathogenic variants were not found by sequencing, we performed a copy number variant (CNV) analysis to screen for duplications or deletions. Overall, sequencing screening allowed identification of six different point variants (three nonsense and three missense changes) and two coding indels, one of them found in two unrelated patients. Additionally, CNV analysis identified a deletion in a patient spanning exon 35 as a result of a recombination event between flanking intronic Alu sequences. This study allowed identification of potentially pathogenic alterations in our sample, five of them novel, which cover 20% of the patients (10/49). Our data suggest that most of these variants are disease-causing, although functional studies are required.
Genètica mèdica
Mecànica humana
Medical genetics
Human mechanics
cc-by (c) Sintas Vives, Cèlia et al., 2017
http://creativecommons.org/licenses/by/3.0/es
Artículo
info:eu-repo/semantics/publishedVersion
Nature Publishing Group
         

Mostrar el registro completo del ítem

Documentos relacionados

Otros documentos del mismo autor/a

Carreño, Oriel; Corominas Castiñeira, Roser; Serra, Selma Angèlica; Sintas Vives, Cèlia; Fernández Castillo, Noelia; Vila Pueyo, Marta; Toma, Claudio; González Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg Vaisman, Daniel Raúl; Valverde, Miguel Ángel; Fernández-Fernández, José Manuel; Macaya Ruiz, Alfons; Cormand Rifà, Bru
Carreño, Oriel; Corominas, Roser; Serra Pascual, Selma A., 1981-; Sintas, Cèlia; Fernández Castillo, Noelia; Vila Pueyo, Marta; Toma, Claudio; Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg, Daniel; Valverde, M. A. (Miguel Ángel), 1963-; Fernández-Fernández, José Manuel, 1967-; Macaya, Alfons; Cormand, Bru
Cabana-Domínguez, Judit; Roncero, Carlos; Grau-López, Lara; Rodríguez-Cintas, Laia; Barral, Carmen; Abad, Alfonso C.; Erikson, Galina; Wineinger, Nathan E; Torrico Aviles, Bàrbara; Arenas Solà, Concepción; Casas, Miquel; Ribasés Haro, Marta; Cormand Rifà, Bru; Fernàndez Castillo, Noelia
Cabana-Domínguez, Judit; Roncero, Carlos; Pineda Cirera, Laura; Palma Álvarez, R. Felipe; Ros Cucurull, Elena; Grau-López, Lara; Esojo, Abderaman; Casas, Miquel; Arenas Solà, Concepción; Ramos Quiroga, Josep Antoni; Ribasés Haro, Marta; Fernàndez Castillo, Noelia; Cormand Rifà, Bru
Barrientos Rubio, Antoni; Volpini Bertrán, Víctor; Casademont i Pou, Jordi; Genís, David; Manzanares, Josep-Maria; Ferrer, Isidro (Ferrer Abizanda); Corral, Jordi; Cardellach, Francesc; Urbano Márquez, A. (Álvaro); Estivill, Xavier, 1955-; Nunes Martínez, Virginia