Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation2
Robinson, D.O., Wills, A.J., Hammans, S.R., Read, S.P. and Sillibourne, J. (2006) Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation2. Journal of Medical Genetics, 43, (5), e23. (doi:10.1136/jmg.2005.037598).
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Description/Abstract
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late onset neuromuscular disease characterised by proximal muscle weakness, ptosis, and swallowing difficulty. The only causative mutation described to date is a triplet repeat expansion consisting of two to seven additional base triplets in a repeat sequence in exon 1 of the polyadenine binding protein nuclear 1 (PABPN1) gene. This results in an increase in length of a polyalanine tract in the PABPN1 protein from 10 to 12-17 residues.
OBJECTIVE: Description of another mutation in a case of OPMD.
METHODS: Sequence analysis of exon 1 of the PABPN1 gene was undertaken on 202 patients referred for a possible diagnosis of OPMD but negative for the triplet repeat expansion mutation.
RESULTS: A case was identified with typical symptoms of OPMD, negative for the repeat expansion mutation but with a missense mutation in PABPN1 close to the 3' end of the normal polyalanine codon repeat sequence.
CONCLUSIONS: The single base mutation changes a glycine codon to an alanine codon and results in an increase in the number of contiguous polyalanine codons. This mimics the effect of the common triplet repeat expansion mutation and represents a previously undescribed mechanism of mutation.
| Item Type: | Article |
|---|---|
| ISSNs: | 0022-2593 (print) |
| Related URLs: | |
| Keywords: | patients, protein, mutation, muscular dystrophy, alanine, muscular dystrophies, point mutation, chemistry, dna mutational analysis, pedigree, sequence analysis, disease, analysis, female, codon, methods, report, glycine, genetics, laboratories, triplets,aged, trinucleotide repeat expansion, diagnosis, humans, muscle weakness, molecular sequence data, muscle, base sequence, poly(a)-binding protein ii, oculopharyngeal |
| Subjects: | R Medicine Q Science > QH Natural history > QH426 Genetics |
| Divisions: | University Structure - Pre August 2011 > School of Medicine |
| Item ID: | 60179 |
| Date Deposited: | 04 Sep 2008 |
| Last Modified: | 02 Mar 2012 12:12 |
| Contributors: | Robinson, D.O. (Author) Wills, A.J. (Author) Hammans, S.R. (Author) Read, S.P. (Author) Sillibourne, J. (Author) |
| Date: | 2006 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/60179 |
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