Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.
Mol Genet Genomic Med
; 12(2): e2389, 2024 Feb.
Article
em En
| MEDLINE
| ID: mdl-38337158
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Deficiência Intelectual Ligada ao Cromossomo X
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Transtornos do Neurodesenvolvimento
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Child
/
Humans
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Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China