Clinical Phenotype of a Rare Pathogenic Variant in STXBP1 Gene

The STXBP1 gene encoding syntaxin-binding protein 1 (STXBP1 or Sec1/Munc18-1), is implicated as a significant genetic contributor to neurodevelopmental disorders (NDD) and epilepsy, known as STXBP1-related disorders. Despite the recognition of this association, the genotype and phenotype spectrum of these disorders is highly diverse, with considerable variability even among recurrent STXBP1 variants, consequently, posing a substantial challenge in effectively managing disease. Here, we present clinical details of a patient harboring a rare heterozygous pathogenic variant (STXBP1: c.1095_1096delCT, p. Cys366ProfsTer13) in STXBP1 gene, for which clinical descriptions are lacking. This underscores the complexities involved in understanding and managing STXBP1-related disorders, necessitating further research and personalized treatment approaches. Key words: STXBP1, c.1095_1096delCT, genotype-phenotype.