ArticleMolecular cytogenetics2016
Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.
Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- The Role of the Immunoglobulin Superfamily of Cell Adhesion Molecules in Intellectual Disability.Cells · 2026Review
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization.Molecular cytogenetics · 2025Article
- Targeted correction of megabase-scalePeerJ · 2025Article
- Copy number variations in autistic children.Biomedical reports · 2024Article
- Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and theACS chemical neuroscience · 2023Article
- Article
- Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report.Frontiers in neurology · 2023Article
- Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation.Diagnostics (Basel, Switzerland) · 2022Article
- Interplay in neural functions of cell adhesion molecule close homolog of L1 (CHL1) and Programmed Cell Death 6 (PDCD6).FASEB bioAdvances · 2022Article
- CHL1-Deficient and Wild-Type Male Mice do Not Differ in Locomotor Recovery from Spinal Cord Injury.Journal of spine research and surgery · 2022Article
- CHL1 deletion is associated with cognitive and language disabilities - Case report and review of literature.Molecular genetics & genomic medicine · 2021Review
- Downregulation of Adhesion Molecule CHL1 in B Cells but Not T Cells of Patients with Major Depression and in the Brain of Mice with Chronic Stress.Neurotoxicity research · 2020Article
- The Role of Synaptic Cell Adhesion Molecules and Associated Scaffolding Proteins in Social Affiliative Behaviors.Biological psychiatry · 2020Review
- Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.BMC medical genetics · 2020Article
- Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2020Review
- Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.Scientific reports · 2019Article
- Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders.Molecular genetics & genomic medicine · 2019Observational
- Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene.Molecular neurobiology · 2018Article
- Cell Adhesion Molecule Close Homolog of L1 (CHL1) Guides the Regrowth of Regenerating Motor Axons and Regulates Synaptic Coverage of Motor Neurons.Frontiers in molecular neuroscience · 2018Article
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5 authors.
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Abstract
backgroundThe cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of the L1 family of neural cell adhesion molecules, and it plays a role in nervous system development and synaptic plasticity. Moreover, studies of mice have revealed that CHL1 is a prime candidate gene for a dosage-sensitive autosomal form of mental retardation. To date, four patients with a microdeletion and two with a microduplication of 3p26.3 encompassing only the CHL1 gene have been reported in literature. CASE PRESENTATION: In the present study, we have described a 16-month-old boy with autism spectrum disorder (ASD), developmental delay and minor dysmorphic facial features. This is the first report of a duplication of 3p26.3 including only the CHL1 gene in an ASD patient, and this duplication is the smallest reported to date in this gene. We also reviewed CHL1 gene mutation cases and examined whether this gene has an important role in cognitive function.
conclusionsWe conclude that both CHL1 deletions and duplications are likely responsible for the patient's impaired cognitive function, and CHL1 may be an intriguing ASD candidate gene.
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