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Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10858311 | PMC |
| http://dx.doi.org/10.1002/mgg3.2389 | DOI Listing |
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