SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population

AbstractThe uptake and efflux of solutes across a plasma membrane is controlled by transporters. There are two main superfamilies of transporters, adenosine 5 ′-triphosphate (ATP) binding cassettes (ABCs) and solute carriers (SLCs). In the brain, SLC transporters are involved in transporting various solutes across the blood–brain barrier, blood–cerebrospinal fluid barrier, astrocytes, neurons, and other brain cell types including oligodendrocytes an d microglial cells. SLCs play an important role in maintaining normal brain function. Hence, mutations in the genes that encode SLC transporters can cause a variety of neurological disorders. We identified the following SLC gene variants in 25 patients in our cohort:SLC1A2,SLC2A1,SLC5A1,SLC6A3,SLC6A5,SLC6A8,SLC9A6,SLC9A9,SLC12A6,SLC13A5,SLC16A1,SLC17A5,SLC19A3,SLC25A12,SLC25A15,SLC27A4,SLC45A1,SLC46A1, andSLC52A3. Eight patients harbored pathogenic or likely pathogenic mutations (SLC5A1,SLC9A6,SLC12A6,SLC16A1,SLC19A3, andSLC52A3), and 12 patients were found to have variants of unknown clinical significance (VOUS); these variants occurred in 11 genes (SLC1A2,SLC2A1,SLC6A3,SLC6A5,SLC6A8,SLC9A6,SLC9A9,SLC13A5,SLC25A12,SLC27A4, andSLC45A1). Five patients were excluded as they were carriers. In the remaining 20 patients with SLC gene variants, we identified 16 possible distinct neurological disorders. Based on the clinical presentation, we categorized them into genes causing intellectual delay (ID) or autism spectrum disorder (AS...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research