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Title: | A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes |
Author: | Urreizti, Roser Cueto Gonzalez, Anna Maria Franco Valls, Héctor Mort Farre, Sílvia Roca Ayats, Neus Ponomarenko, Julia Cozzuto, Luca Company, Carlos Bosio, Mattia Ossowski, Stephan Montfort Roca, Magda Hecht, Jochen Tizzano Ferrari, Eduardo Cormand Rifà, Bru Vilageliu i Arqués, Lluïsa Opitz, John M. Neri, Giovanni Grinberg Vaisman, Daniel Raúl Balcells Comas, Susana |
Keywords: | Neurobiologia del desenvolupament Biologia molecular Developmental neurobiology Molecular biology |
Issue Date: | 10-Mar-2017 |
Publisher: | Nature Publishing Group |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/srep44138 |
It is part of: | Scientific Reports, 2017, vol. 7, num. 44138 |
URI: | http://hdl.handle.net/2445/119645 |
Related resource: | https://doi.org/10.1038/srep44138 |
ISSN: | 2045-2322 |
Appears in Collections: | Articles publicats en revistes (Institut de Biomedicina (IBUB)) Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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