ArticleMolecular autism2017
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Article in Molecular autism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 4 of them syntheses that pooled it.
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Who cites it
75 citing papers in PubMed, 4 syntheses or guidelines pooled it, 114 citations in OpenAlex.
- Animal studies reveal downregulation of the Beclin-1 autophagy pathway as shared mechanism in Autism Spectrum Disorder: a systematic review and meta-analysis.Molecular psychiatry · 2025Pooled it
- Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.Journal of neurodevelopmental disorders · 2022Pooled it
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- A Novel Missense Variant in the GeneBioMed research international · 2021Trial
- Article
- Analysis of haploinsufficiency in human neural progenitor cells: insights into early molecular effects of autism-related genes.Cell death & disease · 2026Article
- Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.EBioMedicine · 2026Article
- Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.International journal of molecular sciences · 2026Review
- Effects of maternal autoantibody exposure at the cellular level: implications for the developing brain.Frontiers in psychiatry · 2026Review
- Targeting the mTOR Pathway with Natural Products: A Potential Therapeutic Approach for Autism Spectrum Disorders.Current neuropharmacology · 2026Review
- Jordan syndrome due toTranslational pediatrics · 2025Article
- Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders.Journal of developmental biology · 2025Review
- Altered Primary Somatosensory Neuron Development in a Pten Heterozygous Model for Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2025Article
- Houge-Janssens syndrome.European journal of human genetics : EJHG · 2025Review
- DNA Methylation Mediates the Association Between Prenatal Maternal Stress and the Broad Autism Phenotype in Human Adolescents: Project Ice Storm.International journal of molecular sciences · 2025Article
- Review
- Autism Spectrum Disorder in a Child with Megalencephaly-capillary Malformation-polymicrogyria Syndrome: A Case Report.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2025Article
- mAutism research : official journal of the International Society for Autism Research · 2025Article
- Neural cell competition sculpting brain from cradle to grave.National science review · 2025Review
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although Methods: We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. Results: We identified ten pathogenic/likely pathogenic mutations in Conclusion: We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. These patients have subtle dysmorphic features and mild developmental issues. Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.