Year: 2024 | Month: August | Volume: 14 | Issue: 8 | Pages: 452-456
DOI: https://doi.org/10.52403/ijhsr.20240852
Clinical phenotype of a Rare Pathogenic Variant in STXBP1 Gene
Komal Uppal1, Lakshay Rana2, Himani Kaushik3, Sunil Polipalli4, Somesh Kumar5, Seema Kapoor6
1Pediatrician, 4Cytogeneticist, 5Scientist, 6Director Professor,
1,4,5,6Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College (Delhi University), Delhi 110002
2Aman Hospital, BF-6, Tagore Garden, Delhi.
3Co-founder Director, Molecular Genetics, Compute Genomics, Pvt. Ltd., New Delhi.
Corresponding Author: Komal Uppal
ABSTRACT
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.