Complete loss of the X-linked gene CASK causes severe cerebellar degeneration.

ABSTRACT:

Background

Heterozygous loss of X-linked genes like CASK and MeCP2 (Rett syndrome) causes developmental delay in girls, while in boys, loss of the only allele of these genes leads to epileptic encephalopathy. The mechanism for these disorders remains unknown. CASK-linked cerebellar hypoplasia is presumed to result from defects in Tbr1-reelin-mediated neuronal migration.

Method

Here we report clinical and histopathological analyses of a deceased 2-month-old boy with a CASK-null mutation. We next generated a mouse line where CASK is completely deleted (hemizygous and homozygous) from postmigratory neurons in the cerebellum.

Result

The CASK-null human brain was smaller in size but exhibited normal lamination without defective neuronal d

SUBMITTER: Patel PA 

PROVIDER: S-EPMC9365889 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature