PRJNA706171
Re-analysis of Whole Exome Sequencing Data Reveals a Novel Splicing Variant in the SLC2A1 in a  Patient with GLUT1 Deficiency Syndrome 1
GLUT1 Deficiency Syndrome 1 (GLUT1DS1) is a neurological disorder caused by mutations in the Solute Carrier Family 2, Member 1 (SLC2A1) gene. SLC2A1 encodes Glucose transporter type 1 (GLUT1) protein, which is the primary glucose transporter at the blood-brain barrier. Here, we report a patient with GLUT1DS1 with a novel SLC2A1 mutation by reanalyzing exome data. She also has a hemangioma which has not been reported in association with this syndrome before.