WDR13 : A Novel Gene Implicated in Non-Syndromic Intellectual Disability

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 dev...

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Bibliographic Details
Published in:Genes 2021-11, Vol.12 (12), p.1911
Main Authors: Rzońca-Niewczas, Sylwia, Wierzba, Jolanta, Kaczorowska, Ewa, Poryszewska, Milena, Kosińska, Joanna, Stawiński, Piotr, Płoski, Rafał, Bal, Jerzy
Format: Article
Language:English
Subjects:
Adult
Cell Cycle Proteins - genetics
DNA methylation
Female
Fibroblasts
FMR1 protein
Gene expression
Gene Expression Regulation
Genes, X-Linked
Genetic diversity
Genomes
Genomics
Humans
Intellectual disabilities
Intellectual Disability - genetics
Intellectual Disability - metabolism
Intellectual Disability - pathology
Male
Mental Retardation, X-Linked - genetics
Mental Retardation, X-Linked - metabolism
Mental Retardation, X-Linked - pathology
Mutation
Nervous system
Patients
Pedigree
Proteins
Synaptic plasticity
Whole Exome Sequencing - methods
X chromosomes
Young Adult
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Summary: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, . 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 expression in the patient's fibroblast. Moreover, it dysregulated other genes linked to intellectual disability, such as , , , and . The obtained results indicate the pathogenic nature of the detected variant and suggest that the gene interacts with other genes essential for the functioning of the nervous system, especially the synaptic plasticity process.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes12121911