Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA683903 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR13234112_1.fastq.gz | Fastqsanger.gz | |||
| SRR13234112_2.fastq.gz | Fastqsanger.gz | |||
| SRR13234113_1.fastq.gz | Fastqsanger.gz | |||
| SRR13234113_2.fastq.gz | Fastqsanger.gz | |||
| SRR13234114_1.fastq.gz | Fastqsanger.gz |
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Project description:Based on a transcriptomic and functional approach, we performed ex-vivo studies on fibroblasts originated from a patient with Intellectual Disability and Autism Spectrum Disorders (ID-ASD) carrying a nonsense de novo mutation in CSDE1. The aim is to decipher the CSDE1-dependent biological pathways involved in the pathophysiology of ID-ASD. We identified the Wnt/β-catenin pathway and cell adhesion as two deregulated cellular pathways deregulated in the ID-ASD patient.
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Project description:An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in the CTCF gene in individuals with intellectual disability, microcephaly and growth retardation. Furthermore, a patient with a larger deletion including CTCF was identified. CTCF (CCCTC-binding factor) is one of the most important chromatin organizers in vertebrates and is involved in various chromatin regulation processes such as higher order of chromatin organization, enhancer function, and maintenance of three-dimensional chromatin structure. Transcriptome analyses in all three patients with point mutations revealed deregulation of genes involved in signal transduction and emphasized the role of CTCF in enhancer-driven expression of genes. Our findings indicate that haploinsufficiency of CTCF affects genomic interaction of enhancers and their regulated gene promoters that drive developmental processes and cognition. Comparison of lymphocyte gene expression between 3 de novo CTCF mutation patients and 8 controls (4 technical replicates each, no biological replicates).
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