ArticleFrontiers in genetics2021
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- USP15 mutation associated with autism spectrum disorder alters progenitor fate and neuronal maturation in human brain organoids.Molecules and cells · 2026Article
- Novel HUWE1-Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026Article
- Serotonin signaling to regulate energy metabolism: a gut microbiota perspective.Life metabolism · 2025Review
- Genetic Variants Linked to Dyslexia Co-Morbid ADHD: A Case Study of a Pakistani Outpatient.Journal of population therapeutics and clinical pharmacology = Journal de la therapeutique des populations et de la pharmacologie clinique · 2024Article
- NovelMolecular syndromology · 2023Article
- Fresh Washed Microbiota Transplantation Alters Gut Microbiota Metabolites to Ameliorate Sleeping Disorder Symptom of Autistic Children.Journal of microbiology (Seoul, Korea) · 2023Article
- Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.European journal of human genetics : EJHG · 2023Article
- Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.Frontiers in pediatrics · 2023Article
- Higher scores on autonomic symptom scales in pediatric patients with neurodevelopmental disorders of known genetic etiology.Brain and behavior · 2022Article
- Genome Guided Personalized Drug Therapy in Attention Deficit Hyperactivity Disorder.Frontiers in psychiatry · 2022Article
- Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism Spectrum Disorder (ASD) refers to a broad range of conditions characterized by difficulties in communication, social interaction and behavior, and may be accompanied by other medical or psychiatric conditions. Patients with ASD and comorbidities are often difficult to diagnose because of the tendency to consider the multiple symptoms as the presentation of a complicated syndromic form. This view influences variant filtering which might ignore causative variants for specific clinical features shown by the patient. Here we report on a male child diagnosed with ASD, showing cognitive and motor impairments, stereotypies, hyperactivity, sleep, and gastrointestinal disturbances. The analysis of whole exome sequencing (WES) data with bioinformatic tools for oligogenic diseases helped us to identify two major previously unreported pathogenetic variants: a maternally inherited missense variant (p.R4122H) in
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