Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13
Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive...
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| Veröffentlicht in: | Annals of neurology 2002-05, Vol.51 (5), p.585-592 |
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| container_title | Annals of neurology |
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| creator | Viollet, Louis Barois, Annie Rebeiz, Jean G. Rifai, Ziad Burlet, Philippe Zarhrate, Mohammed Vial, Elodie Dessainte, Michel Estournet, Brigitte Kleinknecht, Bernard Pearn, John Adams, Raymond D. Urtizberea, Jon A. Cros, Didier P. Bushby, Kate Munnich, Arnold Lefebvre, Suzie |
| description | Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889‐D11S1321, Zmax = 4.59 at θ = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy. |
| doi_str_mv | 10.1002/ana.10182 |
| format | Article |
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Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889‐D11S1321, Zmax = 4.59 at θ = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.10182</identifier><identifier>PMID: 12112104</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Biological and medical sciences ; Child ; Chromosome Mapping - methods ; Chromosomes, Human, Pair 11 - genetics ; Chronic Disease ; Cyclic AMP Response Element-Binding Protein ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Genes, Recessive ; Genetic Markers ; Humans ; Male ; Medical sciences ; Microsatellite Repeats - genetics ; Muscular Atrophy, Spinal - genetics ; Nerve Tissue Proteins - genetics ; Neurology ; Pedigree ; RNA-Binding Proteins ; SMN Complex Proteins</subject><ispartof>Annals of neurology, 2002-05, Vol.51 (5), p.585-592</ispartof><rights>Copyright © 2002 Wiley‐Liss, Inc.</rights><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3892-7eda0c34e9c698219c9870131f49e0236ba842d8ba6bb0933c33178f6dd2c3d13</citedby><cites>FETCH-LOGICAL-c3892-7eda0c34e9c698219c9870131f49e0236ba842d8ba6bb0933c33178f6dd2c3d13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.10182$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.10182$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14187603$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12112104$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Viollet, Louis</creatorcontrib><creatorcontrib>Barois, Annie</creatorcontrib><creatorcontrib>Rebeiz, Jean G.</creatorcontrib><creatorcontrib>Rifai, Ziad</creatorcontrib><creatorcontrib>Burlet, Philippe</creatorcontrib><creatorcontrib>Zarhrate, Mohammed</creatorcontrib><creatorcontrib>Vial, Elodie</creatorcontrib><creatorcontrib>Dessainte, Michel</creatorcontrib><creatorcontrib>Estournet, Brigitte</creatorcontrib><creatorcontrib>Kleinknecht, Bernard</creatorcontrib><creatorcontrib>Pearn, John</creatorcontrib><creatorcontrib>Adams, Raymond D.</creatorcontrib><creatorcontrib>Urtizberea, Jon A.</creatorcontrib><creatorcontrib>Cros, Didier P.</creatorcontrib><creatorcontrib>Bushby, Kate</creatorcontrib><creatorcontrib>Munnich, Arnold</creatorcontrib><creatorcontrib>Lefebvre, Suzie</creatorcontrib><title>Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889‐D11S1321, Zmax = 4.59 at θ = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Chromosome Mapping - methods</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>Chronic Disease</subject><subject>Cyclic AMP Response Element-Binding Protein</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats - genetics</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>RNA-Binding Proteins</subject><subject>SMN Complex Proteins</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10MFu1DAQBmALgehSOPACKBeQegj1eLKOfVxWbUFsy6WIcrImjkMDSZzaSWHfHre7tCckS2NpvpmRfsZeA38PnItjGih9QIknbAFLhFyJQj9lC46yyJeAxQF7EeNPzrmWwJ-zAxCQHi8W7Ps5jWM7_Mh8k9E8-eh76rLgrIuxvXWZvQ5-aG1Wt3FKjZhsKv0c7dxRyGgKfrzeZpO_l_3dvMsAbgBfsmcNddG92tdD9vX05HL9Md98Ofu0Xm1yi0qLvHQ1cYuF01ZqJUBbrUoOCE2hHRcoK1KFqFVFsqq4RrSIUKpG1rWwWAMesne7vWPwN7OLk-nbaF3X0eD8HE0JSitQMsGjHbTBxxhcY8bQ9hS2Bri5y9GkHM19jsm-2S-dq97Vj3IfXAJv94Cipa4JNNg2ProCVCk5Jne8c7_bzm3_f9GsLlb_Tue7iZS4-_MwQeGXkSWWS_Pt4sxsrtafP-jLKyPwL9q3l-E</recordid><startdate>200205</startdate><enddate>200205</enddate><creator>Viollet, Louis</creator><creator>Barois, Annie</creator><creator>Rebeiz, Jean G.</creator><creator>Rifai, Ziad</creator><creator>Burlet, Philippe</creator><creator>Zarhrate, Mohammed</creator><creator>Vial, Elodie</creator><creator>Dessainte, Michel</creator><creator>Estournet, Brigitte</creator><creator>Kleinknecht, Bernard</creator><creator>Pearn, John</creator><creator>Adams, Raymond D.</creator><creator>Urtizberea, Jon A.</creator><creator>Cros, Didier P.</creator><creator>Bushby, Kate</creator><creator>Munnich, Arnold</creator><creator>Lefebvre, Suzie</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Willey-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><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>200205</creationdate><title>Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13</title><author>Viollet, Louis ; Barois, Annie ; Rebeiz, Jean G. ; Rifai, Ziad ; Burlet, Philippe ; Zarhrate, Mohammed ; Vial, Elodie ; Dessainte, Michel ; Estournet, Brigitte ; Kleinknecht, Bernard ; Pearn, John ; Adams, Raymond D. ; Urtizberea, Jon A. ; Cros, Didier P. ; Bushby, Kate ; Munnich, Arnold ; Lefebvre, Suzie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3892-7eda0c34e9c698219c9870131f49e0236ba842d8ba6bb0933c33178f6dd2c3d13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Chromosome Mapping - methods</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Chronic Disease</topic><topic>Cyclic AMP Response Element-Binding Protein</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. 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Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889‐D11S1321, Zmax = 4.59 at θ = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12112104</pmid><doi>10.1002/ana.10182</doi><tpages>8</tpages></addata></record> |
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| subjects | Adult Biological and medical sciences Child Chromosome Mapping - methods Chromosomes, Human, Pair 11 - genetics Chronic Disease Cyclic AMP Response Element-Binding Protein Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Genes, Recessive Genetic Markers Humans Male Medical sciences Microsatellite Repeats - genetics Muscular Atrophy, Spinal - genetics Nerve Tissue Proteins - genetics Neurology Pedigree RNA-Binding Proteins SMN Complex Proteins |
| title | Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 |
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