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
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
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.
267-271
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Hammans, S.R.
6553eac5-9322-4f2b-b677-d4ba698fc10b
Read, S.P.
72349c19-d1fd-4694-b5e3-4bf8e31160aa
Sillibourne, J.
59c2d8c9-fc79-4eb3-815f-c934c5849f14
2005
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Hammans, S.R.
6553eac5-9322-4f2b-b677-d4ba698fc10b
Read, S.P.
72349c19-d1fd-4694-b5e3-4bf8e31160aa
Sillibourne, J.
59c2d8c9-fc79-4eb3-815f-c934c5849f14
Robinson, D.O., Hammans, S.R., Read, S.P. and Sillibourne, J.
(2005)
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.
Human Genetics, 116 (4), .
(doi:10.1007/s00439-004-1235-2).
Abstract
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.
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Published date: 2005
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Local EPrints ID: 24923
URI: http://eprints.soton.ac.uk/id/eprint/24923
ISSN: 0340-6717
PURE UUID: 2c52af1c-fede-4ac5-9211-65b36a715625
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Date deposited: 04 Apr 2006
Last modified: 15 Mar 2024 06:59
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Author:
D.O. Robinson
Author:
S.R. Hammans
Author:
S.P. Read
Author:
J. Sillibourne
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