De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms

In this study, whole-exome sequencing was performed to detect potential pathogenic de novo mutations, and finally we identified a novel damaging de novo mutation in SEMA5A and a compound heterozygous mutation in CLTCL1 in three sporadic trios with IS. The expression profiling of SEMA5A in human brain showed that it was mainly highly expressed in the cerebral cortex during early brain development stage (8-9 post-conception weeks and 0-5 month after birth). In addition, we identified a close protein-protein interaction network between SEMA5A and candidate genes associated with epilepsy, autism spectrum disorder (ASD) or intellectual disability. Gene enrichment and function analysis demonstrated that genes interacting with SEMA5A were significantly enriched in several brain regions across early fetal development, including the cortex, cerebellum, striatum and thalamus (q

Source: Frontiers in Genetics - July 9, 2019 Category: Genetics & Stem Cells Source Type: research