title: Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
abstract: Hereditary hyperekplexia is a neuromotor disorder characterized by exaggerated startle reflexes and muscle stiffness in the neonate. The disease has been associated with mutations in the glycine receptor subunit genes GLRA1 and GLRB. Here, we describe mutations within the neuronal glycine transporter 2 gene (GLYT2, or SLC6A5, ) of hyperekplexia patients, whose symptoms cannot be attributed to glycine receptor mutations. One of the GLYT2 mutations identified causes truncation of the transporter protein and a complete loss of transport function. Our results are consistent with GLYT2 being a disease gene in human hyperekplexia.
authors.affiliation: Department of Neurochemistry, Max-Planck-Institute for Brain Research, Deutschordenstrasse 46, 60529 Frankfurt, Germany.
authors.forename: Volker
authors.initials: V
authors.lastname: Eulenburg
authors.forename: Kristina
authors.initials: K
authors.lastname: Becker
authors.forename: Jesús
authors.initials: J
authors.lastname: Gomeza
authors.forename: Bernhard
authors.initials: B
authors.lastname: Schmitt
authors.forename: Cord-Michael
authors.initials: CM
authors.lastname: Becker
authors.forename: Heinrich
authors.initials: H
authors.lastname: Betz
mesh_terms: D000595:Amino Acid Sequence; D005260:Female; D050487:Glycine Plasma Membrane Transport Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009122:Muscle Hypertonia / Q000235:genetics*; D010375:Pedigree; D013216:Reflex, Startle / Q000235:genetics*; D016415:Sequence Alignment
chemical_list: D050487:Glycine Plasma Membrane Transport Proteins; C493271:SLC6A5 protein, human