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

Abstract

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.

Type Journal
ISBN 0340-6717 (Print)
Authors 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. :
Publisher Name HUMAN GENETICS
Published Date 2001-01-01
Published Volume 109
Published Issue 3
Published Pages 267-70
Status Published in-print
URL link to publisher's version http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11702206
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/1503