Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

ABSTRACT:

Background

Intellectual disability (ID) refers to a childhood-onset neurodevelopmental disorder with a prevalence of approximately 1%-3%.

Methods

We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated by minigene assay.

Results

Here, we report a boy with ID caused by a variant of CNKSR2. His neurological examination revealed hypsarrhythmia via electroencephalography and a right temporal polar arachnoid cyst via brain magnetic resonance imaging. A novel splicing variant in the CNKSR2 gene (NM_014927.5, c.1657+1G>A) was discovered by exome sequencing. The variant caused a 166 bp intron retention between exons 14 and 15, which was validated by a minigene assay. The variant was not reported in public databases such as

SUBMITTER: Lou Y 

PROVIDER: S-EPMC10858311 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature