Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

ABSTRACT: Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family of molecules. Using exome sequencing on samples from five unrelated families, we show that bi-allelic CAMSAP1 loss-of-function variants cause a clinically recognizable, syndromic neuronal migration disorder. The cardinal clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, severe neurodevelopmental delay, cortical visual impairment, and seizures. The neuroradiological phenotype comprises a highly recognizable combination of classic lissencephaly with a posterior more severe than anterior gradi

SUBMITTER: Khalaf-Nazzal R 

PROVIDER: S-EPMC9674946 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature