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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2086| Título : | ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA |
| Creador: | Bahena Bahena D., |
| Nivel de acceso: | Open access |
| Palabras clave : | Cutis Laxo - genética Trastornos Congénitos de Glicosilación - genética ADN Complementario Análisis Mutacional de ADN Humanos Glicosilación Fenotipo México Genes Recesivos Niño cutis laxa - genetics Congenital Disorders of Glycosylation - genetics DNA, Complementary DNA Mutational Analysis Humans glycosylation phenotype Mexico Genes, Recessive child Cutis Laxo Glicosilación ATP6V0A2 gene CDG, ARCL, hispano Laxa, Glycosylation ATP6V0A2 CDG ARCL Hispanic |
| Descripción : | Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other cutis laxa syndromes and classifying it as a Congenital Disorder of Glycosylation (ATP6V0A2-CDG). We studied two Mexican Mestizo patients with a clinical phenotype corresponding to an ARCL-IIA syndrome. Both patients presented abnormal transferrin (N-linked) glycosylation but Patient 1 had a normal ApoCIII (O-linked) glycosylation profile. Mutational screening of ATP6V0A2 using cDNA and genomic DNA revealed in Patient 1 a previously reported homozygous nonsense mutation c.187C>T (p.R63X) associated with a novel clinical finding of a VSD. In Patient 2 we found a homozygous c.2293C>T (p.Q765X) mutation that had been previously reported but found that it also altered RNA processing generating a novel transcript not previously identified (r.2176-2293del; p.F726Sfs*10). This is the first report to describe Mestizo patients with molecular diagnosis of ARCL-IIA/ATP6V0A2-CDG and to establish that their mutations are the first to be found in patients from different regions of the world and with different genetic backgrounds. © 2014 The Authors. Published by Elsevier Inc. |
| Colaborador(es) u otros Autores: | López-Valdez J. Raymond K. Salinas-Marín R. Ortega-García A. Ng B.G. Freeze H.H. Ruz-García M. Martínez-Duncker I. |
| Fecha de publicación : | 2014 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1016/j.ymgmr.2014.04.003 |
| Fuente: | Molecular Genetics and Metabolism Reports 1(1):203 - 212 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2086 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
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