Ontology type: schema:ScholarlyArticle Open Access: True
2015-09-23
AUTHORSJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, Nicolas Lebrun, Adrienne Elmorjani, Jelena Martinovic, Yoann Saillour, Giuseppe Muraca, Juliette Nectoux, Bettina Bessieres, Catherine Fallet-Bianco, Stanislas Lyonnet, Olivier Dulac, Sylvie Odent, Imen Rejeb, Lamia Ben Jemaa, Francois Rivier, Lucile Pinson, David Geneviève, Yuri Musizzano, Nicole Bigi, Nicolas Leboucq, Fabienne Giuliano, Nicole Philip, Catheline Vilain, Patrick Van Bogaert, Hélène Maurey, Cherif Beldjord, François Artiguenave, Anne Boland, Robert Olaso, Cécile Masson, Patrick Nitschké, Jean-François Deleuze, Nadia Bahi-Buisson, Jamel Chelly
ABSTRACTTo unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD. More... »
PAGES611-614
http://scigraph.springernature.com/pub.10.1038/ejhg.2015.192
DOIhttp://dx.doi.org/10.1038/ejhg.2015.192
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1030071803
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/26395554
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