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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

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Guimier, Anne | Gabriel, George | Bajolle, Fanny | Tsang, Michael | Liu, Hui | Noll, Aaron | Schwartz, Molly | El Malti, Rajae | Smith, Laurie | Klena, Nikolai | Jimenez, Gina | Miller, Neil | Oufadem, Myriam | Moreau de Bellaing, Anne | Yagi, Hisato | Saunders, Carol | Baker, Candice | Di Filippo, Sylvie | Peterson, Kevin | Thiffault, Isabelle | Bole-Feysot, Christine | Cooley, Linda | Farrow, Emily | Masson, Cécile | Schoen, Patric | Deleuze, Jean-François | Nitschké, Patrick | Lyonnet, Stanislas | de Pontual, Loic | Murray, Stephen | Bonnet, Damien | Kingsmore, Stephen | Amiel, Jeanne | Bouvagnet, Patrice | Lo, Cecilia | Gordon, Christopher

Edité par CCSD ; Nature Publishing Group -

International audience. Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates.

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