Observational studyMolecular genetics & genomic medicine2019
Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders.
Observational study in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Folate-Methionine Cycle Disruptions in ASD Patients and Possible Interventions: A Systematic Review.Genes · 2023Pooled it
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- Body Composition and Anthropometric Measurements in Children and Adolescents with Autism Spectrum Disorder: A Case-Control Study in Lebanon.Nutrients · 2024Article
- Autism-related KLHL17 and SYNPO act in concert to control activity-dependent dendritic spine enlargement and the spine apparatus.PLoS biology · 2023Article
- Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population.BMC psychiatry · 2023Article
- Assessment of Feeding Behaviors and Parents' Frustrations of Children with Autism Spectrum Disorder in Lebanon: A Case-Control Study.Children (Basel, Switzerland) · 2023Article
- Article
- Review
- A new molecular risk pathway for postpartum mood disorders: clues from steroid sulfatase-deficient individuals.Archives of women's mental health · 2021Review
- Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2020Review
- 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
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these disorders have not been totally explored.
methodsThus, the aim of our work was to identify rare CNVs and genes present in these regions in ASD children, using a high-resolution comparative genomic hybridization technique and quantitative PCR (qPCR) approach.
resultsOur results have shown 60-70 chromosomal aberrations per patient. We have initially selected 66 CNVs that have been further assessed using qPCR. Finally, we have validated 22 CNVs including 11 deletions and 11 duplications. Ten CNVs are de novo, 11 are inherited and one of unknown origin of transmission. Among the CNVs detected, novel ASD candidate genes PJA2, SYNPO, APCS, and TAC1 have been identified in our group of Lebanese patients. In addition, previously described CNVs have been identified containing genes such as SHANK3, MBP, CHL1, and others.
conclusionOur study broadens the population spectrum of studied ASD patients and adds new candidates at the list of genes contributing to these disorders.
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