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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia
Volker Eulenburg1, Kristina Becker, Jesús Gomeza
1Department of Neurochemistry, Max-Planck-Institute for Brain Research, Deutschordenstrasse 46, 60529 Frankfurt, Germany.
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.
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