3 research outputs found
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder
caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1)
leading to defective glucose transport across the bloodâbrain barrier. This work
describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS
hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2%
had a variant in one of 13 different genes. No pathogenic variant was identified for
the remaining patients. Expression analysis of SLC2A1 indicated a reduction in
SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one
patient with a pathogenic variant in SLC9A6, and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated
with GLUT1DS may be caused by defects in genes other than SLC2A1Carlos III Institute (ISCIII), European Regional
Development Funds (PI19/01155); CIBERER
(ERTRLE0I1); ConsejerĂa de Educacion,
Juventud y Deporte, Comunidad de Madrid
(B2017/BMD3721); Fundacion Isabel Gemio,
the Fundacion La Caixa (LCF/PR/
PR16/11110018