ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA
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 Co...
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doaj-09e610a3fb4547e8a41f2bcc1066295c2020-11-24T23:07:14ZengElsevierMolecular Genetics and Metabolism Reports2214-42692014-01-011C20321210.1016/j.ymgmr.2014.04.003ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIAD. Bahena-Bahena0J. López-Valdez1K. Raymond2R. Salinas-Marín3A. Ortega-García4B.G. Ng5H.H. Freeze6M. Ruíz-García7I. Martínez-Duncker8Human Glycobiology Laboratory, Science Faculty, Morelos State Autonomous University, Cuernavaca, MexicoDepartment of Genetics, Centenario Miguel Hidalgo Hospital, Aguascalientes, MexicoDepartment of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, USAHuman Glycobiology Laboratory, Science Faculty, Morelos State Autonomous University, Cuernavaca, MexicoHuman Glycobiology Laboratory, Science Faculty, Morelos State Autonomous University, Cuernavaca, MexicoSanford Burnham Medical Research Institute, La Jolla, USASanford Burnham Medical Research Institute, La Jolla, USANeurology Department, National Institute of Pediatrics, Mexico City, MexicoHuman Glycobiology Laboratory, Science Faculty, Morelos State Autonomous University, Cuernavaca, MexicoPatients 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.http://www.sciencedirect.com/science/article/pii/S2214426914000317LaxaGlycosylationATP6V0A2CDGARCLHispanic |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
D. Bahena-Bahena J. López-Valdez K. Raymond R. Salinas-Marín A. Ortega-García B.G. Ng H.H. Freeze M. Ruíz-García I. Martínez-Duncker |
spellingShingle |
D. Bahena-Bahena J. López-Valdez K. Raymond R. Salinas-Marín A. Ortega-García B.G. Ng H.H. Freeze M. Ruíz-García I. Martínez-Duncker ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA Molecular Genetics and Metabolism Reports Laxa Glycosylation ATP6V0A2 CDG ARCL Hispanic |
author_facet |
D. Bahena-Bahena J. López-Valdez K. Raymond R. Salinas-Marín A. Ortega-García B.G. Ng H.H. Freeze M. Ruíz-García I. Martínez-Duncker |
author_sort |
D. Bahena-Bahena |
title |
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA |
title_short |
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA |
title_full |
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA |
title_fullStr |
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA |
title_full_unstemmed |
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA |
title_sort |
atp6v0a2 mutations present in two mexican mestizo children with an autosomal recessive cutis laxa syndrome type iia |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2014-01-01 |
description |
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. |
topic |
Laxa Glycosylation ATP6V0A2 CDG ARCL Hispanic |
url |
http://www.sciencedirect.com/science/article/pii/S2214426914000317 |
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