A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

• Published in: Developmental medicine and child neurology Vol. 49; no. 5; pp. 380 - 384
• Main Authors: Vermeer, Sascha, Koolen, David A, Visser, Gepke, Brackel, Hein J L, Van Der Burgt, Ineke, De Leeuw, Nicole, Willemsen, Michèl A A P, Sistermans, Erik A, Pfundt, Rolph, De Vries, Bert B A
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.05.2007; Wiley-Blackwell; Mac Keith Press
• Subjects: Abnormalities, Multiple - genetics; Blood Glucose - metabolism; Brain - pathology; Chromosome Deletion; Chromosomes, Human, Pair 1 - genetics; Craniofacial Abnormalities - genetics; Data Analysis; Developmental Delays; Developmental Disabilities - genetics; Genetic Disorders; Genetics; Glucose Transporter Type 1 - genetics; Humans; Infant; Intellectual Disability - genetics; Magnetic Resonance Imaging; Male; Males; Mental Retardation; Metabolism; Microcephaly - diagnosis; Microcephaly - genetics; Nucleic Acid Hybridization; Oligonucleotide Array Sequence Analysis; Phenotype; Psychomotor Disorders - genetics; Seizures; Severe Disabilities
• ISSN: 0012-1622; 1469-8749
• DOI: 10.1111/j.1469-8749.2007.00380.x

A de novo 4.1‐megabase microdeletion of chromosome 1p34.2p34.3 has been identified by array‐based comparative genomic hybridization in a young male with severely delayed development, microcephaly, pronounced hypotonia, and facial dysmorphism. The deleted region encompasses 48 genes, among them the glucose transporter 1 (SLC2A1 or GLUT1) gene. The deletion of the GLUT1 gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777). GLUT1 deficiency syndrome is characterized by therapy‐resistant infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low concentration of glucose in the CSF. It is known that a ketogenic diet can lead to better control of seizures. This case study shows that identifying a microdeletion as the cause of learning disability is not only important for genetic counselling but might also lead to therapeutic intervention.