Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype
Direct sequencing of the emerin gene in 22 families with Emery–Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD. Most emerin mutations result in absence of the protein. In this study thr...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 1999-05, Vol.9 (3), p.159-165 |
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| container_title | Neuromuscular disorders : NMD |
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| creator | Yates, John R.W Bagshaw, Jane Aksmanovic, Veronica M.A Coomber, Ellen McMahon, Robert Whittaker, Joanne L Morrison, Patrick J Kendrick-Jones, John Ellis, Juliet A |
| description | Direct sequencing of the emerin gene in 22 families with Emery–Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD. Most emerin mutations result in absence of the protein. In this study three mutations (a missense mutation Pro183Thr and two in-frame deletions removing residues 95-99 and 236-241, respectively) were unusual in being associated with expression of mutant protein. The phenotype in these families was compared in detail with the clinical features in cases with typical null mutations. For the in-frame deletions there were no significant differences. In the family with the missense mutation the phenotype was milder. Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness. These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein. |
| doi_str_mv | 10.1016/S0960-8966(98)00121-7 |
| format | Article |
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Most emerin mutations result in absence of the protein. In this study three mutations (a missense mutation Pro183Thr and two in-frame deletions removing residues 95-99 and 236-241, respectively) were unusual in being associated with expression of mutant protein. The phenotype in these families was compared in detail with the clinical features in cases with typical null mutations. For the in-frame deletions there were no significant differences. In the family with the missense mutation the phenotype was milder. Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness. These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein.</description><identifier>ISSN: 0960-8966</identifier><identifier>EISSN: 1873-2364</identifier><identifier>DOI: 10.1016/S0960-8966(98)00121-7</identifier><identifier>PMID: 10382909</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Amino Acid Substitution ; Cardiac disease ; DNA - chemistry ; DNA - genetics ; DNA Mutational Analysis ; Emerin ; Emery–Dreifuss muscular dystrophy ; Family Health ; Female ; Genetic Linkage ; Genotype ; Humans ; Male ; Membrane Proteins - genetics ; Muscle disease ; Muscular Dystrophies - genetics ; Muscular Dystrophy, Emery-Dreifuss ; Mutation detection ; Mutation, Missense ; Nuclear Proteins ; Pedigree ; Phenotype ; Proline - genetics ; Threonine - genetics ; Thymopoietins - genetics ; X chromosome ; X Chromosome - genetics</subject><ispartof>Neuromuscular disorders : NMD, 1999-05, Vol.9 (3), p.159-165</ispartof><rights>1999 Elsevier Science B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c361t-35a321d1695b505294c7542fcb1ba0ce0771626445bc3460ec065388474e01de3</citedby><cites>FETCH-LOGICAL-c361t-35a321d1695b505294c7542fcb1ba0ce0771626445bc3460ec065388474e01de3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0960896698001217$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27903,27904,65309</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10382909$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yates, John R.W</creatorcontrib><creatorcontrib>Bagshaw, Jane</creatorcontrib><creatorcontrib>Aksmanovic, Veronica M.A</creatorcontrib><creatorcontrib>Coomber, Ellen</creatorcontrib><creatorcontrib>McMahon, Robert</creatorcontrib><creatorcontrib>Whittaker, Joanne L</creatorcontrib><creatorcontrib>Morrison, Patrick J</creatorcontrib><creatorcontrib>Kendrick-Jones, John</creatorcontrib><creatorcontrib>Ellis, Juliet A</creatorcontrib><title>Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype</title><title>Neuromuscular disorders : NMD</title><addtitle>Neuromuscul Disord</addtitle><description>Direct sequencing of the emerin gene in 22 families with Emery–Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD. Most emerin mutations result in absence of the protein. In this study three mutations (a missense mutation Pro183Thr and two in-frame deletions removing residues 95-99 and 236-241, respectively) were unusual in being associated with expression of mutant protein. The phenotype in these families was compared in detail with the clinical features in cases with typical null mutations. For the in-frame deletions there were no significant differences. In the family with the missense mutation the phenotype was milder. Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness. These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein.</description><subject>Amino Acid Substitution</subject><subject>Cardiac disease</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Emerin</subject><subject>Emery–Dreifuss muscular dystrophy</subject><subject>Family Health</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Muscle disease</subject><subject>Muscular Dystrophies - genetics</subject><subject>Muscular Dystrophy, Emery-Dreifuss</subject><subject>Mutation detection</subject><subject>Mutation, Missense</subject><subject>Nuclear Proteins</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Proline - genetics</subject><subject>Threonine - genetics</subject><subject>Thymopoietins - genetics</subject><subject>X chromosome</subject><subject>X Chromosome - genetics</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1u1TAQhS0EopfCI4C8QnQRsGPHSVaoKqUgVWIBSOwsx57oGpI4eBxQdrxDNzwfT4J7c1WxYzWj0Xfm7xDylLOXnHH16iNrFSuaVqkXbXPGGC95Ud8jO97UoiiFkvfJ7g45IY8Qv2aoqlX9kJxwJpqyZe2O_L6CKaR1hmLeHzNqJjOs6JH6iX4pBj99A0cvR4jrn183byL4fkGk44J2GUykbsUUw7xfs9BR72BKvvfWJB8mGnpq6OgRYULImrSVDWKw3qTc-KdP-wMzOIj0bovH5EFvBoQnx3hKPr-9_HTxrrj-cPX-4vy6sELxVIjKiJI7rtqqq1hVttLWlSx72_HOMAusrrkqlZRVZ4VUDCxTlWgaWUtg3IE4Jc-3vnMM3xfApPO2FobBTBAW1KrNrJA8g9UG2hgQI_R6jn40cdWc6VtL9MESfftv3Tb6YImus-7ZccDSjeD-UW0eZOD1BkA-84eHqNF6mCw4H8Em7YL_z4i_Mr6fpA</recordid><startdate>19990501</startdate><enddate>19990501</enddate><creator>Yates, John R.W</creator><creator>Bagshaw, Jane</creator><creator>Aksmanovic, Veronica M.A</creator><creator>Coomber, Ellen</creator><creator>McMahon, Robert</creator><creator>Whittaker, Joanne L</creator><creator>Morrison, Patrick J</creator><creator>Kendrick-Jones, John</creator><creator>Ellis, Juliet A</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19990501</creationdate><title>Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype</title><author>Yates, John R.W ; Bagshaw, Jane ; Aksmanovic, Veronica M.A ; Coomber, Ellen ; McMahon, Robert ; Whittaker, Joanne L ; Morrison, Patrick J ; Kendrick-Jones, John ; Ellis, Juliet A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c361t-35a321d1695b505294c7542fcb1ba0ce0771626445bc3460ec065388474e01de3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Amino Acid Substitution</topic><topic>Cardiac disease</topic><topic>DNA - chemistry</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Emerin</topic><topic>Emery–Dreifuss muscular dystrophy</topic><topic>Family Health</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Muscle disease</topic><topic>Muscular Dystrophies - genetics</topic><topic>Muscular Dystrophy, Emery-Dreifuss</topic><topic>Mutation detection</topic><topic>Mutation, Missense</topic><topic>Nuclear Proteins</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Proline - genetics</topic><topic>Threonine - genetics</topic><topic>Thymopoietins - genetics</topic><topic>X chromosome</topic><topic>X Chromosome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yates, John R.W</creatorcontrib><creatorcontrib>Bagshaw, Jane</creatorcontrib><creatorcontrib>Aksmanovic, Veronica M.A</creatorcontrib><creatorcontrib>Coomber, Ellen</creatorcontrib><creatorcontrib>McMahon, Robert</creatorcontrib><creatorcontrib>Whittaker, Joanne L</creatorcontrib><creatorcontrib>Morrison, Patrick J</creatorcontrib><creatorcontrib>Kendrick-Jones, John</creatorcontrib><creatorcontrib>Ellis, Juliet A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yates, John R.W</au><au>Bagshaw, Jane</au><au>Aksmanovic, Veronica M.A</au><au>Coomber, Ellen</au><au>McMahon, Robert</au><au>Whittaker, Joanne L</au><au>Morrison, Patrick J</au><au>Kendrick-Jones, John</au><au>Ellis, Juliet A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>1999-05-01</date><risdate>1999</risdate><volume>9</volume><issue>3</issue><spage>159</spage><epage>165</epage><pages>159-165</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>Direct sequencing of the emerin gene in 22 families with Emery–Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD. Most emerin mutations result in absence of the protein. In this study three mutations (a missense mutation Pro183Thr and two in-frame deletions removing residues 95-99 and 236-241, respectively) were unusual in being associated with expression of mutant protein. The phenotype in these families was compared in detail with the clinical features in cases with typical null mutations. For the in-frame deletions there were no significant differences. In the family with the missense mutation the phenotype was milder. Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness. These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>10382909</pmid><doi>10.1016/S0960-8966(98)00121-7</doi><tpages>7</tpages></addata></record> |
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| subjects | Amino Acid Substitution Cardiac disease DNA - chemistry DNA - genetics DNA Mutational Analysis Emerin Emery–Dreifuss muscular dystrophy Family Health Female Genetic Linkage Genotype Humans Male Membrane Proteins - genetics Muscle disease Muscular Dystrophies - genetics Muscular Dystrophy, Emery-Dreifuss Mutation detection Mutation, Missense Nuclear Proteins Pedigree Phenotype Proline - genetics Threonine - genetics Thymopoietins - genetics X chromosome X Chromosome - genetics |
| title | Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype |
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