STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy

Syntaxin-binding protein 6 (STXBP6), also known as amysin, is an essential component of the SNAP receptor (SNARE) complex and plays a crucial role in neuronal vesicle trafficking. Mutations in genes encoding SNARE proteins are often associated with a broad spectrum of neurological conditions defined...

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Bibliographic Details
Published in:International journal of molecular sciences 2023-11, Vol.24 (22), p.16436
Main Authors: Vinci, Mirella, Costanza, Carola, Galati Rando, Rosanna, Treccarichi, Simone, Saccone, Salvatore, Carotenuto, Marco, Roccella, Michele, Calì, Francesco, Elia, Maurizio, Vetri, Luigi
Format: Article
Language:English
Subjects:
Amino acids
amysin
Autism
Convulsions & seizures
Encephalopathy
Epilepsy
Gene mutations
Genes
Genetic aspects
Hormones
Intellectual disabilities
Levetiracetam
Mutation
Neurodevelopmental disorders
next-generation sequencing
Protein binding
Proteins
Scientific equipment and supplies industry
SNAP25
Standard scores
STXBP6 gene
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Summary:Syntaxin-binding protein 6 (STXBP6), also known as amysin, is an essential component of the SNAP receptor (SNARE) complex and plays a crucial role in neuronal vesicle trafficking. Mutations in genes encoding SNARE proteins are often associated with a broad spectrum of neurological conditions defined as “SNAREopathies”, including epilepsy, intellectual disability, and neurodevelopmental disorders such as autism spectrum disorders. The present whole exome sequencing (WES) study describes, for the first time, the occurrence of developmental epileptic encephalopathy and autism spectrum disorders as a result of a de novo deletion within the STXBP6 gene. The truncated protein in the STXBP6 gene leading to a premature stop codon could negatively modulate the synaptic vesicles’ exocytosis. Our research aimed to elucidate a plausible, robust correlation between STXBP6 gene deletion and the manifestation of developmental epileptic encephalopathy.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms242216436