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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

2015; Springer Nature; Volume: 24; Issue: 4 Linguagem: Inglês

10.1038/ejhg.2015.192

1476-5438

Julia Lauer Zillhardt, Karine Poirier, Loïc Broix, Nicolas Lebrun, Adrienne Elmorjani, Jéléna Martinovic, Yoann Saillour, Giuseppe Muraca, Juliette Nectoux, Bettina Bessières, Catherine Fallet‐Bianco, Stanislas Lyonnet, Olivier Dulac, Sylvie Odent, Imen Rejeb, Lamia Ben Jemâa, François Rivier, Lucile Pinson, David Geneviève, Yuri Musizzano, Nicole Bigi, Nicolas Leboucq, Fabienne Giuliano, Nicole Philip, Catheline Vilain, Patrick Van Bogaert, Hélène Maurey, Chérif Beldjord, François Artiguenave, Anne Boland, Robert Olaso, Cécile Masson, Patrick Nitschké, Jean‐François Deleuze, Nadia Bahi‐Buisson, Jamel Chelly,

Microtubule and mitosis dynamics

To 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.