Document Detail

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.
MedLine Citation:
PMID:  15645184     Owner:  NLM     Status:  MEDLINE    
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterised by proximal muscle weakness, ptosis and swallowing difficulty. The causative genetic abnormality is an expansion consisting of 2-7 additional base triplets in a repeat sequence in exon 1 of the PABPN1 (PABP2) gene and results in an increase in length of the polyalanine tract in the PABPN1 protein from 10 to 12-17 residues. The expansions are stable through meiosis and mitosis suggesting a different mechanism of mutation from that of most other triplet repeat mutations. Most reports describe OPMD expansions as consisting of multiples of a GCG sequence. However, some studies have detected GCA interspersions. We have analysed 86 OPMD patients with a PABPN1 gene expansion, including three compound heterozygotes, and have identified 13 different types of expansion mutation, six of which contain GCA and GCG and almost all of which are consistent with a mutational mechanism of unequal recombination.
David O Robinson; Simon R Hammans; Steven P Read; Julie Sillibourne
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Publication Detail:
Type:  Journal Article     Date:  2005-01-12
Journal Detail:
Title:  Human genetics     Volume:  116     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-02-15     Completed Date:  2005-04-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  267-71     Citation Subset:  IM    
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.
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MeSH Terms
Base Sequence
DNA Primers
Muscular Dystrophy, Oculopharyngeal / genetics*
Poly(A)-Binding Protein II / genetics*
Polymerase Chain Reaction
Recombination, Genetic*
Reg. No./Substance:
0/DNA Primers; 0/Poly(A)-Binding Protein II

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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