Article
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Human mutation - 1 May 2020
Lecoquierre François, Brehin Anne-Claire, Coutant Sophie, Coursimault Juliette, Bazin Anne, Finck Wilfrid, Benoist Guillaume, Begorre Marianne, Beneteau Claire, Cailliez Daniel, Chenal Pierre, De Jong Mirjam, Degré Sophie, Devisme Louise, Francannet Christine, Gérard Bénédicte, Jeanne Corinne, Joubert Madeleine, Journel Hubert, Laurichesse Delmas Hélène, Layet Valérie, Liquier Alain, Mangione Raphaele, Patrier Sophie, Pelluard Fanny, Petit Florence, Tillouche Nadia, van Ravenswaaij-Arts Conny, Frebourg Thierry, Saugier-Veber Pascale, Gruchy Nicolas, Nicolas Gaël, Gerard Marion
Abstract excerpt
Sirenomelia is a rare severe malformation sequence of unknown cause characterized by fused legs and severe visceral abnormalities. We present a series of nine families including two rare familial aggregations of sirenomelia investigated by a trio-based exome sequencing strategy. This approach identified CDX2 variants in the two familial aggregations, both fitting an autosomal dominant pattern of inheritance with...
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