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Abstract

October - December 2022 | Vol. 15 | Issue 4 | 05-07
A Novel Splice Site Loss Variant in SLC2A1 Causing Autosomal Dominant Infantile Onset GLUT1 Deficiency Syndrome 1
Tanya Golani1, Veronica Arora1, Praveen Suman2, Imran Mushtaq2, Salil Bhargava3, Praveen Kumar4
1 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India 2 Child Development Clinic, Institute of Child Health, Department of Pediatrics, Sir Ganga Ram Hospital, New Delhi, India 3 Sir Ganga Ram Hospital, New Delhi, India 4 Department of Pediatrics, Sir Ganga Ram Hospital, New Delhi, India Correspondence to: Dr Veronica Arora Email: veronicaarora@gmail.com
Address for Correspondence Email: veronicaarora@gmail.com
 
Abstract
Glucose transporter type 1 (GLUT1) deficiency is a treatable neurometabolic disorder caused due to defect in the facilitative glucose transporter, GLUT1, present in the brain. Variants in SLC2A1 are known to result in GLUT1 deficiency syndrome. We report a 6-year-old male who presented with global developmental delay and epilepsy. Whole exome sequencing identified a novel heterozygous likely pathogenic variant, c.1279-8_1288del in exon 10 of SLC2A1. This also unmasked the diagnosis of his mother who also had the same variant with milder. Diagnosis allowed appropriate management of both the proband and his mother, highlighting the importance of a systematic approach for diagnosis of genetic disorders.
 
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