Miniatura

Fitxers

666489.pdf (701.07 KB)

Tipus de document

Article

Versió

Versió publicada

Data de publicació

2017-03-10

Llicència de publicació

cc-by (c) Urreizti, Roser et al., 2017
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/119645

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

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

https://doi.org/10.1038/srep44138

Resum

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.

Matèries

Neurobiologia del desenvolupament, Biologia molecular

Matèries (anglès)

Developmental neurobiology, Molecular biology

Citació

Col·leccions

Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Articles publicats en revistes (Institut de Biomedicina (IBUB))

Citació

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. A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes. _Scientific Reports_. 2017. Vol. 7, núm. 44138. [consulta: 25 de febrer de 2026]. ISSN: 2045-2322. [Disponible a: https://hdl.handle.net/2445/119645]

Exportar metadades

JSON - METS

Compartir registre