A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review

• Main Authors: Ying Zhang (Author), Yanyan Nie (Author), Yu Mu (Author), Jie Zheng (Author), Xiaowei Xu (Author), Fang Zhang (Author), Jianbo Shu (Author), Yang Liu (Author)
• Format: Book
• Published: BMC, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The pathogenic variation of CASK gene can cause CASK related mental disorders. The main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, X-linked mental disorders with or without nystagmus and FG syndrome. The main pathogenic mechanism is the loss...