Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

[Background] Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such se...

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Detalles Bibliográficos
Autores: Brasil, Sandra, Leal, Fátima, Vega, Ana I., Navarrete, Rosa, Ecay, María J., Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, María Luz, Martín-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel T., Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/168015
Acceso en línea:http://hdl.handle.net/10261/168015
Access Level:acceso abierto
Palabra clave:Cobalamin disorders
Methylmalonic aciduria
Homocystinuria
Massive parallel sequencing
Descripción
Sumario:[Background] Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such sequencing to help in the selection of the gene defects to be sought, but this is time-consuming and laborious. Furthermore some cases remain undiagnosed because no biochemical methods have been available to test for cobalamin absorption and transport defects.

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