Por favor, use este identificador para citar o enlazar este ítem: 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: pdf
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
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