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- Title
Compound heterozygosity and nonsense mutations in the α<sub>1</sub>-subunit of the inhibitory glycine receptor in hyperekplexia.
- Authors
Rees, Mark I.; Lewis, Trevor M.; Vafa, Behnaz; Ferrie, Colin; Corry, Peter; Muntoni, Fransesco; Jungbluth, Heinz; Stephenson, John B.; Kerr, Mike; Snell, Russell G.; Schofield, Peter R.; Owen, Michael J.
- Abstract
The α1-inhibitory glycine receptor is a ligand-gated chloride channel composed of three ligand-binding α1-subunits and two structural β-subunits that are clustered on the postsynaptic membrane of inhibitory glycinergic neurons. Dominant and recessive mutations in GLRA1 subunits have been associated with a proportion of individuals and families with startle disease or hyperekplexia (MIM: 149400). Following SSCP and bi-directional di-deoxy fingerprinting mutational analysis of 22 unrelated individuals with hyperekplexia and hyperekplexia-related conditions, we report further novel missense mutations and the first nonsense point mutations in GLRA1, the majority of which localise outside the regions previously associated with dominant, disease-segregating mutations. Population studies reveal the unique association of each mutation with disease, and reveals that a proportion of sporadic hyperekplexia is accounted for by the homozygous inheritance of recessive GLRA1 mutations or as part of a compound heterozygote.
- Publication
Human Genetics, 2001, Vol 109, Issue 3, p267
- ISSN
0340-6717
- Publication type
Academic Journal
- DOI
10.1007/s004390100569