Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.

ABSTRACT:

Background

CASK is an X-linked gene in mammals and its deletion in males is incompatible with life. CASK heterozygous mutations in female patients associate with intellectual disability, microcephaly, pontocerebellar hypoplasia, and optic nerve hypoplasia, whereas CASK hemizygous mutations in males manifest as early infantile epileptic encephalopathy with a grim prognosis. Here, we report a rare case of survival of a male patient harboring a CASK null mutation to adolescent age.

Methods

Trio whole exome sequencing analysis was performed from blood genomic DNA. Magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and electroencephalogram (EEG) analyses were performed to determine anomalies in brain development, metabolite concentrations, and electrical act

SUBMITTER: Mukherjee K 

PROVIDER: S-EPMC7549553 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature