1. WDR13 : A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
- Author
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Rzońca-Niewczas S, Wierzba J, Kaczorowska E, Poryszewska M, Kosińska J, Stawiński P, Płoski R, and Bal J
- Subjects
- Adult, Female, Humans, Intellectual Disability genetics, Intellectual Disability metabolism, Male, X-Linked Intellectual Disability genetics, X-Linked Intellectual Disability metabolism, Pedigree, Exome Sequencing methods, Young Adult, Cell Cycle Proteins genetics, Gene Expression Regulation, Genes, X-Linked, Intellectual Disability pathology, X-Linked Intellectual Disability pathology, Mutation
- Abstract
Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for over 10% of all cases of ID in males. XLID genes are involved in many cellular pathways and processes. Some of them are not specific to the development and functioning of the neural system. The implementation of exome sequencing simplifies the search for novel variants, especially those less expected. Here, we describe a nonsense variant of the XLID gene, WDR13 . The mutation c.757C>T (p.Arg253Ter) was uncovered by X-chromosome exome sequencing in males with a familial form of intellectual disability. Quantitative PCR (qPCR) analysis showed that variant c.757C>T caused a significant decrease in WDR13 expression in the patient's fibroblast. Moreover, it dysregulated other genes linked to intellectual disability, such as FMR1 , SYN1 , CAMK2A , and THOC2 . The obtained results indicate the pathogenic nature of the detected variant and suggest that the WDR13 gene interacts with other genes essential for the functioning of the nervous system, especially the synaptic plasticity process.
- Published
- 2021
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