Strides in STXBP1: What Happened Last Month in STXBP1 Research?
So, what was new in April 2024?
April was a slow month for STXBP1 publications, maybe it’s all those showers. Still there were a couple papers of note.
A paper out of Ukraine reported the results of whole exome sequencing or gene panel sequencing of 417 children with global developmental delay plus other symptoms. The group determined that 66 of the children had a pathogenic genetic variant, 56 had a single gene mutation and 10 had multiple gene deletions. Of the 56 children with a single gene mutation, 2 had variants in the STXBP1 gene. The paper shows the importance of genetic screening for developmental delay in order to identify a causative gene.
A research group from Brazil published a paper looking at potential genetic causes in 30 patients originally diagnosed with congenital ataxia. Congenital ataxias are a group of rare hereditary disorders characterized by low muscle tone and developmental motor delay in the first few months of life, followed by cerebellar ataxia in early childhood. Cerebellar ataxia refers to motor symptoms such as decreased ability to balance, unsteady gait, and uncoordinated arm and leg movements. Whole exome sequencing was performed on the 30 patients and pathogenic variants were found in 14. These variants included 11 different genes including one patient with a variant in the STXBP1 gene. Interestingly, it appears that this person has motor symptoms such as tremors, lessened reflexes (hyporeflexia), and abnormal eye movements (Hypermetric saccades) but no other neurological symptoms were noted. This paper demonstrates how mutations in the STXBP1 gene can present differently in patients, in this case motor abnormalities only.
A general review paper on Infantile epileptic spasms syndrome (IESS)/developmental epileptic encephalopathies (DEEs) was published by a Canadian group. It covered a broad range of genes associated with DEEs including STXBP1, where it recognized that the gene is one of the leading causes of IESS/DEE.
