| Autor: |
Lou, Yuting, Shi, Xinglei, Su, Guofa, Guo, Yufan, Gao, Liuyan, Wang, Ye, Miao, Pu, Feng, Jianhua |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine; Feb2024, Vol. 12 Issue 2, p1-9, 9p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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