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

Autor: Nicole de Leeuw, Hein J L Brackel, Michèl A.A.P. Willemsen, Sascha Vermeer, Ineke van der Burgt, Erik A. Sistermans, Bert B.A. de Vries, David A. Koolen, Rolph Pfundt, Gepke Visser
Přispěvatelé: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
Jazyk: angličtina
Rok vydání: 2007
Předmět:
Blood Glucose
Male
medicine.medical_specialty
Microcephaly
Ataxia
Genetic counseling
medicine.medical_treatment
Developmental Disabilities
Genomic disorders and inherited multi-system disorders [IGMD 3]
Craniofacial Abnormalities
Developmental Neuroscience
Internal medicine
Intellectual Disability
medicine
Humans
Abnormalities
Multiple
Spasticity
Oligonucleotide Array Sequence Analysis
Glucose Transporter Type 1
biology
Glucose transporter
Brain
Infant
Nucleic Acid Hybridization
medicine.disease
Magnetic Resonance Imaging
Neuromuscular development and genetic disorders [UMCN 3.1]
Hypotonia
Endocrinology
Phenotype
Genetic defects of metabolism [UMCN 5.1]
Chromosomes
Human
Pair 1
Pediatrics
Perinatology and Child Health
biology.protein
GLUT1
Neurology (clinical)
medicine.symptom
Chromosome Deletion
Psychomotor Disorders
Functional Neurogenomics [DCN 2]
Ketogenic diet
Zdroj: Developmental Medicine and Child Neurology, 49(5), 380-384. Wiley-Blackwell
Developmental Medicine & Child Neurology, 49, 5, pp. 380-4
Developmental Medicine & Child Neurology, 49, 380-4
Vermeer, S, Koolen, D A, Visser, G, Brackel, H J L, van der Burgt, I, de Leeuw, N, Willemsen, M A A P, Sistermans, E A, Pfundt, R & de Vries, B B A 2007, ' A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development ', Developmental Medicine and Child Neurology, vol. 49, no. 5, pp. 380-384 . https://doi.org/10.1111/j.1469-8749.2007.00380.x
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2007.00380.x
Popis: Contains fulltext : 52206.pdf (Publisher’s version ) (Closed access) 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.
Databáze: OpenAIRE
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