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Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Human Mutation ( IF 4.124 ) Pub Date : 2020-03-01 , DOI: 10.1002/humu.23998
François Lecoquierre,Anne-Claire Brehin,Sophie Coutant,Juliette Coursimault,Anne Bazin,Wilfrid Finck,Guillaume Benoist,Marianne Begorre,Claire Beneteau,Daniel Cailliez,Pierre Chenal,Mirjam De Jong,Sophie Degré,Louise Devisme,Christine Francannet,Bénédicte Gérard,Corinne Jeanne,Madeleine Joubert,Hubert Journel,Hélène Laurichesse Delmas,Valérie Layet,Alain Liquier,Raphaele Mangione,Sophie Patrier,Fanny Pelluard,Florence Petit,Nadia Tillouche,Conny van Ravenswaaij-Arts,Thierry Frebourg,Pascale Saugier-Veber,Nicolas Gruchy,Gaël Nicolas,Marion Gerard

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 variable expressivity. CDX2 is a major regulator of caudal development in vertebrate and mouse heterozygotes are a previously described model of sirenomelia. Remarkably, the p.(Arg237His) variant has already been reported in a patient with persistent cloaca. Analysis of the sporadic cases revealed six additional candidate variants including a de novo frameshift variant in the genetically constrained NKD1 gene, encoding a known interactor of CDX2. We provide the first insights for a genetic contribution in human sirenomelia and highlight the role of Cdx and Wnt signaling pathways in the development of this disorder.
更新日期:2020-03-01

 

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