Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

PDAC syndrome is a rare and severe syndrome characterized by defects in development of the lung, diaphragm, eyes, and heart. Two genes involved in the action of retinoic acid, a derivative of vitamin A, were previously implicated in PDAC syndrome. We demonstrate in this manuscript the involvement of a third gene, named WNT7B, in patients affected by PDAC syndrome. This discovery will facilitate the molecular diagnosis of PDAC syndrome in the future. It also provides new insight into human development, raising the possibility that WNT7B and retinoic acid act together in the development of organs affected in the PDAC syndrome. (By Dr Nicolas Chassaing, https://jmg.bmj.com/content/early/2022/07/05/jmedgenet-2022-108475)

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