A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)
Amelogenesis imperfecta (AI) is an inherited tooth disorder affecting tooth enamel formation only. A gene for autosomal dominant AI, the local hypoplastic form, has been localized to a 4 Mb region on chromosome 4q (AIH2). The enamelin gene ( ENAM  ), has been mapped to chromoso...
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fthighwire:oai:open-archive.highwire.org:hmg:11/9/1069 2023-05-15T17:44:41+02:00 A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) Mårdh, Carina K. Bäckman, Birgitta Holmgren, Gösta Hu, Jan C.-C. Simmer, James P. Forsman-Semb, Kristina 2002-05-01 00:00:00.0 text/html http://hmg.oxfordjournals.org/cgi/content/short/11/9/1069 https://doi.org/10.1093/hmg/11.9.1069 en eng Oxford University Press http://hmg.oxfordjournals.org/cgi/content/short/11/9/1069 http://dx.doi.org/10.1093/hmg/11.9.1069 Copyright (C) 2002, Oxford University Press ARTICLES TEXT 2002 fthighwire https://doi.org/10.1093/hmg/11.9.1069 2007-06-24T21:02:51Z Amelogenesis imperfecta (AI) is an inherited tooth disorder affecting tooth enamel formation only. A gene for autosomal dominant AI, the local hypoplastic form, has been localized to a 4 Mb region on chromosome 4q (AIH2). The enamelin gene ( ENAM  ), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic autosomal dominant AI (ADAI). In this study, we describe an ENAM mutation causing the local hypoplastic form of ADAI, a phenotype that accounts for 27% of the autosomally inherited cases in Northern Sweden. This nonsense mutation in the enamelin gene results in a truncated peptide of 52 amino acids as compared with 1142 amino acids of the normal protein. Our results show that while a splice site mutation is associated with smooth and thin hypoplastic AI, a base substitution resulting in a shorter peptide causes local hypoplasia of the enamel, a milder form of AI. These findings support ENAM as a disease gene, and shed new light on the molecular mechanism of the disease and to the function of the enamelin protein in enamel formation. Text Northern Sweden HighWire Press (Stanford University) Human Molecular Genetics 11 9 1069 1074 |
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ARTICLES Mårdh, Carina K. Bäckman, Birgitta Holmgren, Gösta Hu, Jan C.-C. Simmer, James P. Forsman-Semb, Kristina A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) |
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ARTICLES |
description |
Amelogenesis imperfecta (AI) is an inherited tooth disorder affecting tooth enamel formation only. A gene for autosomal dominant AI, the local hypoplastic form, has been localized to a 4 Mb region on chromosome 4q (AIH2). The enamelin gene ( ENAM  ), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic autosomal dominant AI (ADAI). In this study, we describe an ENAM mutation causing the local hypoplastic form of ADAI, a phenotype that accounts for 27% of the autosomally inherited cases in Northern Sweden. This nonsense mutation in the enamelin gene results in a truncated peptide of 52 amino acids as compared with 1142 amino acids of the normal protein. Our results show that while a splice site mutation is associated with smooth and thin hypoplastic AI, a base substitution resulting in a shorter peptide causes local hypoplasia of the enamel, a milder form of AI. These findings support ENAM as a disease gene, and shed new light on the molecular mechanism of the disease and to the function of the enamelin protein in enamel formation. |
format |
Text |
author |
Mårdh, Carina K. Bäckman, Birgitta Holmgren, Gösta Hu, Jan C.-C. Simmer, James P. Forsman-Semb, Kristina |
author_facet |
Mårdh, Carina K. Bäckman, Birgitta Holmgren, Gösta Hu, Jan C.-C. Simmer, James P. Forsman-Semb, Kristina |
author_sort |
Mårdh, Carina K. |
title |
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) |
title_short |
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) |
title_full |
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) |
title_fullStr |
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) |
title_full_unstemmed |
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) |
title_sort |
nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (aih2) |
publisher |
Oxford University Press |
publishDate |
2002 |
url |
http://hmg.oxfordjournals.org/cgi/content/short/11/9/1069 https://doi.org/10.1093/hmg/11.9.1069 |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_relation |
http://hmg.oxfordjournals.org/cgi/content/short/11/9/1069 http://dx.doi.org/10.1093/hmg/11.9.1069 |
op_rights |
Copyright (C) 2002, Oxford University Press |
op_doi |
https://doi.org/10.1093/hmg/11.9.1069 |
container_title |
Human Molecular Genetics |
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11 |
container_issue |
9 |
container_start_page |
1069 |
op_container_end_page |
1074 |
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1766146947574398976 |