Ccdc88c-KO Mouse

CCDC88C, encoding coiled-coil domain containing 88C, is crucial for cell communication during neural development. It is a component of non-canonical Wnt signaling and may contribute to ependymal cell planar polarity by inhibiting the non-canonical Wnt signaling pathway. It also interacts with MPDZ and PARD3 [3].

CCDC88C variants have been associated with multiple diseases. In epilepsy, de novo and biallelic variants were identified in patients with focal epilepsy. De novo variants led to adult-onset epilepsy, while biallelic variants caused infant-onset epilepsy, and all patients responded well to anti-seizure medications [1]. In breast cancer, CCDC88C was found to drive breast cancer metastasis by promoting c-JUN-mediated CEMIP transcription, and its stability was maintained by GALNT6-mediated O-linked glycosylation [2]. In congenital hydrocephalus, pathogenic variants in CCDC88C were related to specific neuropathological hallmarks such as multifocal atresia-forking in the brain [3]. Additionally, CCDC88C mutations were linked to spinocerebellar ataxia (SCA40) and early-onset pure spastic paraplegia [4,5,6,7].

In conclusion, CCDC88C plays essential roles in neural development and cell communication, with its dysregulation contributing to various neurological and cancer-related diseases. The study of CCDC88C variants in different disease models helps in understanding the genotype-phenotype correlations and the underlying molecular mechanisms, which may provide insights for disease diagnosis and treatment.