Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.

ingentiumby ingentium

In Autism Literature.

Publication date: Jun 17, 2025

Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families. A targeted panel of genes was chosen and analyzed for each case, based on a detailed examination of clinical data. Gene analyses revealed that specific variants concern key neurobiological processes involving neuronal architecture, development, and function. These variants occur in a number of genes, including SHANK3, DLG3, NALCN, and PACS2 which are critical for synaptic signaling imbalance, CEP120 and BBS5 for ciliopathies, SPTAN1 for spectrins structure, SPATA5, TRAK1, and VPS13B for neuronal organelles trafficking and integrity, TAF6, SMARCB1, DDX3X, MECP2, and SETD1A for gene expression, CDK13 for cell cycle control, ALDH5A1, DPYD, FH, and PDHX for mitochondrial function, and PQBP1, HUWE1, and WDR45 for neuron homeostasis. Novel single nucleotide variants in the SPATA5, CEP120, BBS5, SETD1A, TRAK1, VPS13B, and DDX3X genes have been identified and proposed for use in ASD diagnostics. Our data contribute to a better understanding of the complex neurobiological features of autism and are applicable in the diagnosis and development of personalized therapeutic approaches.

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Concepts Keywords
Autism Adolescent
Ddx3x Adult
Homeostasis Autism Spectrum Disorder
Nucleotide autism spectrum disorder
Trafficking Autistic Disorder
Child
Child, Preschool
Exome
Exome Sequencing
Female
Genetic Association Studies
Humans
Male
neuron function
neuron structure
Polymorphism, Single Nucleotide
single nucleotide variations
whole exome sequencing

Semantics

Type Source Name
disease MESH Autism
disease MESH Autism spectrum disorder
disease MESH pathogenesis
disease MESH ciliopathies
drug DRUGBANK Tropicamide
drug DRUGBANK Coenzyme M
disease MESH ADHD
disease MESH mood disorders
disease MESH anxiety
disease MESH obsessive compulsive disorder
disease MESH gender dysphoria
disease MESH psychosis
disease MESH catatonia
disease MESH schizophrenia
disease MESH Mental Disorders
disease MESH neurodevelopmental disorders
disease MESH Asperger’s syndrome
disease MESH syndromes
disease MESH intellectual disability
disease MESH epilepsy
disease MESH tuberous sclerosis complex
disease MESH neurofibromatosis
disease MESH Rett syndrome
disease MESH phenylketonuria
pathway REACTOME Phenylketonuria
disease MESH mitochondrial disorders
pathway KEGG Metabolic pathways
disease MESH clinical relevance
drug DRUGBANK Edetic Acid
disease MESH West syndrome
disease MESH tremors
disease MESH epileptic seizures
disease MESH gait
disease MESH defects
disease MESH speech delay
disease MESH Microcephaly
disease MESH hypertelorism
disease MESH ocular coloboma
disease MESH spasms
disease MESH atrophy
disease MESH tics
disease MESH hypotension
disease MESH hyporeflexia
disease MESH hip dysplasia
disease MESH encephalopathy
disease MESH Polydactyly
disease MESH Febrile seizures
disease MESH paralysis
disease MESH divergent strabismus
disease MESH hydrocephaly
disease MESH deformity
disease MESH scoliosis
disease MESH demyelination
disease MESH quadriplegia
disease MESH blindness
disease MESH enterocolitis
disease MESH hemangioma
disease MESH hypotonia
disease MESH movement disorders
drug DRUGBANK gamma-Aminobutyric acid
pathway REACTOME Glycolysis
drug DRUGBANK Isoxaflutole
pathway REACTOME Metabolism
pathway REACTOME Methylation
drug DRUGBANK ATP
pathway REACTOME Macroautophagy
pathway REACTOME Glucose metabolism
disease MESH phenotypic variability
disease MESH cerebellar hypoplasia
disease MESH cognitive impairment
drug DRUGBANK Indoleacetic acid
disease MESH cerebral palsy
pathway REACTOME Autophagy
drug DRUGBANK Polyethylene glycol
disease MESH privacy
disease MESH Developmental Disabilities
disease MESH Point Mutations
pathway REACTOME Pervasive developmental disorders
disease MESH Succinic Semialdehyde Dehydrogenase Deficiency
disease MESH Gliomas
disease MESH Dihydropyrimidine Dehydrogenase Deficiency
disease MESH Uniparental Isodisomy
disease MESH Fumaric aciduria
disease MESH pyruvate dehydrogenase complex deficiency
drug DRUGBANK Acetylcholine
drug DRUGBANK Pyruvic acid
drug DRUGBANK Guanosine
drug DRUGBANK Myricetin
disease MESH cancer
drug DRUGBANK L-Lysine
disease MESH congenital heart defects
pathway REACTOME Intraflagellar transport
disease MESH Bardet Biedl syndrome
disease MESH neurological disorders
disease MESH Hearing Loss
disease MESH Cohen syndrome
disease MESH Neurodegenerative Diseases
pathway REACTOME Neurodegenerative Diseases
disease MESH death

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