A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker‐Warburg syndrome in two Spanish Gypsy families
2009; Wiley; Volume: 76; Issue: 1 Linguagem: Inglês
10.1111/j.1399-0004.2009.01188.x
ISSN1399-0004
AutoresRP Cotarelo, Oihane Fano, Madalina Raducu, A Peña, P. Tarilonte, Fernando Mateos, Raquel S. Simón, A. Cabello, J. Cruces,
Tópico(s)RNA Research and Splicing
ResumoClinical GeneticsVolume 76, Issue 1 p. 108-112 A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families RP Cotarelo, RP Cotarelo Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorO Fano, O Fano Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorM Raducu, M Raducu Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorA Peña, A Peña Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorP Tarilonte, P Tarilonte Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorF Mateos, F Mateos Unidad de Neurología PediátricaSearch for more papers by this authorR Simón, R Simón Unidad de Neurología PediátricaSearch for more papers by this authorA Cabello, A Cabello Sección de Neuropatología, Departamento de Anatomía Patológica, Hospital Universitario 12 de Octubre, Madrid, SpainSearch for more papers by this authorJ Cruces, Corresponding Author J Cruces Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainDr Jesús Cruces, Departamento de Bioquímica Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC Facultad de Medicina Universidad Autónoma de Madrid, Madrid, Spain.Tel.: +34 91 4975406fax: +34 91 5854401e-mail: [email protected]Search for more papers by this author RP Cotarelo, RP Cotarelo Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorO Fano, O Fano Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorM Raducu, M Raducu Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorA Peña, A Peña Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorP Tarilonte, P Tarilonte Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorF Mateos, F Mateos Unidad de Neurología PediátricaSearch for more papers by this authorR Simón, R Simón Unidad de Neurología PediátricaSearch for more papers by this authorA Cabello, A Cabello Sección de Neuropatología, Departamento de Anatomía Patológica, Hospital Universitario 12 de Octubre, Madrid, SpainSearch for more papers by this authorJ Cruces, Corresponding Author J Cruces Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, SpainDr Jesús Cruces, Departamento de Bioquímica Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC Facultad de Medicina Universidad Autónoma de Madrid, Madrid, Spain.Tel.: +34 91 4975406fax: +34 91 5854401e-mail: [email protected]Search for more papers by this author First published: 15 July 2009 https://doi.org/10.1111/j.1399-0004.2009.01188.xCitations: 8Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Supporting Information Supporting Information Additional Supporting Information may be found in the online version of this article. Fig. S1. Location of the mutations described on the POMT1 protein and conservation degree of the amino acids involved. (a) Predicted transmembrane structure for POMT1 in the ER, where the mutations found in patients 1.1 and 2.1 are marked in red. (b) Alignment of Serine 515. This serine is evolutionarily conserved in all vertebrates from birds (red), but not in the rest of organisms (blue). (c) Alignment of exon 4. This exon is conserved almost completely in vertebrates from Amphibia. The length of this exon (17 amino acids) is also identical in all organisms analysed, even in Porifera, indicating that it probably fulfils a functional role. Please note: Wiley-Blackwell Publishing are not responsible for the content or functionality of any supporting materials supplied by the authors. Any queries (other than missing material) should be directed to the corresponding author for the article. Filename Description CGE_1188_sm_Suppinfo_figs1.pdf499.9 KB Supporting info item Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. References 1 Van Reeuwijk J, Brunner HG, Van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet 2005: 67: 281–289. 2 Martin PT. Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage. Nat Clin Pract Neurol 2006: 2: 222–230. 3 Martin PT. The dystroglycanopathies: the new disorders of O-linked glycosylation. 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Citing Literature Volume76, Issue1July 2009Pages 108-112 ReferencesRelatedInformation
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