| Literature DB >> 26395554 |
Julia Lauer Zillhardt1,2,3, Karine Poirier1,2, Loïc Broix1,2,4, Nicolas Lebrun1,2, Adrienne Elmorjani1,2, Jelena Martinovic5, Yoann Saillour1,2, Giuseppe Muraca1,2, Juliette Nectoux1,2,6, Bettina Bessieres7, Catherine Fallet-Bianco8,9, Stanislas Lyonnet10, Olivier Dulac11,12,13, Sylvie Odent14, Imen Rejeb15, Lamia Ben Jemaa15, Francois Rivier16, Lucile Pinson17, David Geneviève17, Yuri Musizzano18, Nicole Bigi19, Nicolas Leboucq20, Fabienne Giuliano21, Nicole Philip22, Catheline Vilain23, Patrick Van Bogaert24, Hélène Maurey25, Cherif Beldjord6, François Artiguenave26, Anne Boland26, Robert Olaso26, Cécile Masson27, Patrick Nitschké27, Jean-François Deleuze26, Nadia Bahi-Buisson28,29, Jamel Chelly1,2,3,4.
Abstract
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.Entities:
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Year: 2015 PMID： 26395554 PMCID： PMC4929884 DOI： 10.1038/ejhg.2015.192
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246