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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 gnomAD and the Exome Aggregation Consortium.

Conclusions

The variant was predicted to be damaging to correct the translation of the CNKRS2 protein and was classified as likely pathogenic according to the ACMG guidelines.

SUBMITTER: Lou Y 

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

REPOSITORIES: biostudies-literature

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Publications

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

Lou Yuting Y   Shi Xinglei X   Su Guofa G   Guo Yufan Y   Gao Liuyan L   Wang Ye Y   Miao Pu P   Feng Jianhua J  

Molecular genetics & genomic medicine 20240201 2

<h4>Background</h4>Intellectual disability (ID) refers to a childhood-onset neurodevelopmental disorder with a prevalence of approximately 1%-3%.<h4>Methods</h4>We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated by minigene assay.<h4>Results</h4>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 mag  ...[more]

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