Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Rees, M.I. et al.

Rees, Lewis, Vafa, Ferrie, Corry, Muntoni, Jungbluth, Stephenson, Kerr, Snell, Schofield, Owen,

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.

The alpha(1)-inhibitory glycine receptor is a ligand-gated chloride channel composed of three ligand- binding alpha1-subunits and two structural beta-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.[1]

References

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. Rees, M.I., Lewis, T.M., Vafa, B., Ferrie, C., Corry, P., Muntoni, F., Jungbluth, H., Stephenson, J.B., Kerr, M., Snell, R.G., Schofield, P.R., Owen, M.J. Hum. Genet. (2001) [Pubmed]

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