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A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes

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dc.contributor.author Urreizti, Roser
dc.contributor.author Cueto González, Anna María
dc.contributor.author Franco Valls, Héctor
dc.contributor.author Mort Farre, Sílvia
dc.contributor.author Roca Ayats, Neus
dc.contributor.author Ponomarenko, Julia
dc.contributor.author Cozzuto, Luca
dc.contributor.author Company, Carlos
dc.contributor.author Bosio, Mattia
dc.contributor.author Ossowski, Stephan
dc.contributor.author Montfort, Magda
dc.contributor.author Hecht, Jochen
dc.contributor.author Tizzano, Eduardo F.
dc.contributor.author Cormand, Bru
dc.contributor.author Vilageliu, Lluïsa
dc.contributor.author Opitz, John M.
dc.contributor.author Neri, Giovanni
dc.contributor.author Grinberg, Daniel
dc.contributor.author Balcells, Susana
dc.date.accessioned 2018-07-23T07:58:28Z
dc.date.available 2018-07-23T07:58:28Z
dc.date.issued 2017
dc.identifier.citation Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Sci Rep. 2017 Mar 10;7:44138. DOI: 10.1038/srep44138
dc.identifier.issn 2045-2322
dc.identifier.uri http://hdl.handle.net/10230/35222
dc.description.abstract Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different patterns of inheritance and genetic heterogeneity are known in this syndrome. Whole exome and genome sequencing of a 19-year-old girl (P7), initially diagnosed with OTCS, revealed a de novo nonsense mutation, p.Q638*, in the MAGEL2 gene. MAGEL2 is an imprinted, maternally silenced, gene located at 15q11-13, within the Prader-Willi region. Patient P7 carried the mutation in the paternal chromosome. Recently, mutations in MAGEL2 have been described in Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis. Patient P7 bears resemblances with SHFYNG cases but has other findings not described in this syndrome and common in OTCS. We sequenced MAGEL2 in nine additional OTCS patients and no mutations were found. This study provides the first clear molecular genetic basis for an OTCS case, indicates that there is overlap between OTCS and SHFYNG syndromes, and confirms that OTCS is genetically heterogeneous. Genes encoding MAGEL2 partners, either in the retrograde transport or in the ubiquitination-deubiquitination complexes, are promising candidates as OTCS disease-causing genes.
dc.description.sponsorship Funding was from Associació Síndrome Opitz C, Terrassa, Spain; Spanish Ministerio de Economía y Competitividad (SAF2014-56562-R; FECYT, crowdfunding PRECIPITA); Catalan Government (2014SGR932) and from CIBERER (U720). We acknowledge support of the Spanish Ministry of Economy and Competitiveness, 'Centro de Excelencia Severo Ochoa 2013-2017'.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Publishing Group
dc.relation.ispartof Scientific Reports. 2017 Mar 10;7:44138
dc.rights © The Author(s) 2017. This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/srep44138
dc.subject.keyword Molecular medicine
dc.subject.keyword Magel2
dc.subject.keyword Schaaf-yang syndrome
dc.subject.keyword Opitz trigonocephaly C syndrome
dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/SAF2014-56562-R
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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