Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

ABSTRACT: Brain development requires the coordinated growth of structures and cues that are essential for forming neural circuits and cognitive functions. The corpus callosum, the largest interhemispheric connection, is formed by the axons of callosal projection neurons through a series of tightly regulated cellular events, including neuronal specification, migration, axon extension and branching. Defects in any of those steps can lead to a range of disorders known as syndromic corpus callosum dysgenesis (CCD). We report five unrelated families carrying bi-allelic variants in WDR47 presenting with CCD together with other neuroanatomical phenotypes such as microcephaly and enlarged ventricles. Using in vitro and in vivo mouse models and complementation assays, we show that WDR47 is required for survi

SUBMITTER: Efil Bayam 

PROVIDER: S-SCDT-10_1038-S44321-024-00178-Z | biostudies-other |

REPOSITORIES: biostudies-other