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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 Frexedas, 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, Magda
Hecht, Jochen
Tizzano, Eduardo F.
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:
It is part of: Scientific Reports, 2017, vol. 7, num. 44138
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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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