ArticleEuropean journal of human genetics : EJHG2023
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 17 citations in OpenAlex.
- Syntaxin1A in synaptopathies: From molecular mechanisms to therapeutic implications in neurological disorders (Review).Biomedical reports · 2026Review
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- Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene,Human mutation · 2025Article
- Sensor-Based and Visual Behavioral Profiling of Dry Holstein Cows Presenting Distinct Median Core Body Temperatures.Animals : an open access journal from MDPI · 2024Article
- Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome.JCI insight · 2024Article
- 2023 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2024Article
- A transporter's doom or destiny:Frontiers in molecular neuroscience · 2024Review
- STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.International journal of molecular sciences · 2023Article
- Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder.European journal of human genetics : EJHG · 2023Article
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17 authors at 9 institutions in 6 countries.
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No grant is acknowledged in the PubMed record.
Abstract
The neuronal SNARE complex drives synaptic vesicle exocytosis. Therefore, one of its core proteins syntaxin 1A (STX1A) has long been suspected to play a role in neurodevelopmental disorders. We assembled eight individuals harboring ultra rare variants in STX1A who present with a spectrum of intellectual disability, autism and epilepsy. Causative variants comprise a homozygous splice variant, three de novo missense variants and two inframe deletions of a single amino acid. We observed a phenotype mainly driven by epilepsy in the individuals with missense variants in contrast to intellectual disability and autistic behavior in individuals with single amino acid deletions and the splicing variant. In silico modeling of missense variants and single amino acid deletions show different impaired protein-protein interactions. We hypothesize the two phenotypic courses of affected individuals to be dependent on two different pathogenic mechanisms: (1) a weakened inhibitory STX1A-STXBP1 interaction due to missense variants results in an STX1A-related developmental epileptic encephalopathy and (2) a hampered SNARE complex formation due to inframe deletions causes an STX1A-related intellectual disability and autism phenotype. Our description of a STX1A-related neurodevelopmental disorder with or without epilepsy thus expands the group of rare diseases called SNAREopathies.
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