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

Julia Lauer Zillhardt 1 Karine Poirier 1 Loic Broix 1 Nicolas Lebrun 1 Adrienne Elmorjani 1 Jelena Martinovic 2 Yoann Saillour 1 Giuseppe Muraca 3, 1 Juliette Nectoux 4, 1 Bettina Bessieres 5 Catherine Fallet-Bianco 6 Stanislas Lyonnet 7, 5 Olivier Dulac 8, 9, 10 Sylvie Odent 11, 12, 13 Imen Rejeb Lamia Ben Jemaa François Rivier 14, 15 Lucile Pinson 16, 17 David Geneviève 17 Yuri Musizzano Nicole Bigi 18 Nicolas Leboucq Fabienne Giuliano 19 Nicole Philip 20 Catheline Vilain 21 Patrick van Bogaert Hélène Maurey 22 Cherif Beldjord 23 François Artiguenave 24 Anne Boland 24 Robert Olaso 24 Cecile Masson 25 Patrick Nitschke 25 Jean-François Deleuze 24 Nadia Bahi-Buisson 26, 5 Jamel Chelly 27, 1
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
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Submitted on : Tuesday, May 10, 2016 - 1:19:58 PM
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Julia Lauer Zillhardt, Karine Poirier, Loic Broix, Nicolas Lebrun, Adrienne Elmorjani, et al.. Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩. ⟨hal-01313739⟩

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