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Significance Human congenital diaphragmatic defects are almost as common as cystic fibrosis, cause neonatal mortality, and often result in multisystem morbidity throughout childhood. Research investigating mechanisms of development is needed to understand the pathogenesis of disease. In this report, we identified a model caused by a mutation in kinesin motor family genekinesin family member 7 . We determined that this gene is required to regulate cell proliferation, patterning, and differentiation in the embryonic diaphragm. We ascertained several functions of retinoid signaling in diaphragm development and gained insight into how perturbations in this signaling network promote the pathogenesis of congenital diaphragmatic hernia.

Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia