Deletion analysis of Bulgarian SMA families
All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8...
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| Veröffentlicht in: | Human mutation 1998, Vol.12 (1), p.33-38 |
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| creator | Jordanova, Albena Stoyanova, Violeta Uzunova, Maria Litvinenko, Ivan Kremensky, Ivo |
| description | All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype–genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype. Hum Mutat 12:33–38, 1998. © 1998 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y |
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Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype–genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype. Hum Mutat 12:33–38, 1998. © 1998 Wiley‐Liss, Inc.</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y</identifier><identifier>PMID: 9633817</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Bulgaria ; Bulgarian families ; Chromosomes, Human, Pair 5 ; Cyclic AMP Response Element-Binding Protein ; Female ; Gene Deletion ; Genotype ; Humans ; Male ; Muscular Atrophy, Spinal - genetics ; NAIP ; Nerve Tissue Proteins - genetics ; Neuronal Apoptosis-Inhibitory Protein ; Pedigree ; Phenotype ; RNA-Binding Proteins ; SMA ; SMN ; SMN Complex Proteins</subject><ispartof>Human mutation, 1998, Vol.12 (1), p.33-38</ispartof><rights>Copyright © 1998 Wiley‐Liss, Inc.</rights><rights>Copyright © 1998 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4425-8657b3ec4ebe7ee9b8e550084c186cc5ac2410649d5440621b88da5ad85b13c83</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%2F%28SICI%291098-1004%281998%2912%3A1%3C33%3A%3AAID-HUMU5%3E3.0.CO%3B2-Y$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F%28SICI%291098-1004%281998%2912%3A1%3C33%3A%3AAID-HUMU5%3E3.0.CO%3B2-Y$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,4023,27922,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9633817$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jordanova, Albena</creatorcontrib><creatorcontrib>Stoyanova, Violeta</creatorcontrib><creatorcontrib>Uzunova, Maria</creatorcontrib><creatorcontrib>Litvinenko, Ivan</creatorcontrib><creatorcontrib>Kremensky, Ivo</creatorcontrib><title>Deletion analysis of Bulgarian SMA families</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><description>All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype–genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype. Hum Mutat 12:33–38, 1998. © 1998 Wiley‐Liss, Inc.</description><subject>Bulgaria</subject><subject>Bulgarian families</subject><subject>Chromosomes, Human, Pair 5</subject><subject>Cyclic AMP Response Element-Binding Protein</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>NAIP</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neuronal Apoptosis-Inhibitory Protein</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>RNA-Binding Proteins</subject><subject>SMA</subject><subject>SMN</subject><subject>SMN Complex Proteins</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkVtrE0EYhgdRam39CcLihbTIpnM-RBHSbW0DrYHGoL36mJ1MZNpNtu5k0fx7Z7shFyp6NYfv4XmZeREaEjwgGNOTo-m4GB8TbHSezvyIGKOPCR2S94wNh6PxWX45u56JD2yAB8XkHc1vn6D9Hf602wuTK2X4c_QixjuMsRaC7aE9IxnTRO2jt2e-8utQrzK7stUmhpjVi-y0rb7ZJthVNr0eZQu7DFXw8RA9W9gq-pfb9QDNPp5_Li7zq8nFuBhd5Y5zKnIthSqZd9yXXnlvSu2FSMncES2dE9ZRTrDkZi44x5KSUuu5FXauRUmY0-wAvem9D039vfVxDcsQna8qu_J1G0EZw4UQ9L8gkVwoLkUCX_8G3tVtkx6cGKOolop00E0PuaaOsfELeGjC0jYbIBi6PgC6PqD74O7MoesDCAUCjAGkPuCxD2CAoZgAhdskfbVNbsuln--U2wLSfNrPf4TKb_5I_Ffg3_L6i2TNe2uIa_9zZ7XNPUjFlIAvny6AsK-nfKoV3LBfTYGxDg</recordid><startdate>1998</startdate><enddate>1998</enddate><creator>Jordanova, Albena</creator><creator>Stoyanova, Violeta</creator><creator>Uzunova, Maria</creator><creator>Litvinenko, Ivan</creator><creator>Kremensky, Ivo</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Hindawi Limited</general><scope>BSCLL</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>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>1998</creationdate><title>Deletion analysis of Bulgarian SMA families</title><author>Jordanova, Albena ; Stoyanova, Violeta ; Uzunova, Maria ; Litvinenko, Ivan ; Kremensky, Ivo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4425-8657b3ec4ebe7ee9b8e550084c186cc5ac2410649d5440621b88da5ad85b13c83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Bulgaria</topic><topic>Bulgarian families</topic><topic>Chromosomes, Human, Pair 5</topic><topic>Cyclic AMP Response Element-Binding Protein</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>NAIP</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Neuronal Apoptosis-Inhibitory Protein</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>RNA-Binding Proteins</topic><topic>SMA</topic><topic>SMN</topic><topic>SMN Complex Proteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jordanova, Albena</creatorcontrib><creatorcontrib>Stoyanova, Violeta</creatorcontrib><creatorcontrib>Uzunova, Maria</creatorcontrib><creatorcontrib>Litvinenko, Ivan</creatorcontrib><creatorcontrib>Kremensky, Ivo</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jordanova, Albena</au><au>Stoyanova, Violeta</au><au>Uzunova, Maria</au><au>Litvinenko, Ivan</au><au>Kremensky, Ivo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Deletion analysis of Bulgarian SMA families</atitle><jtitle>Human mutation</jtitle><addtitle>Hum. Mutat</addtitle><date>1998</date><risdate>1998</risdate><volume>12</volume><issue>1</issue><spage>33</spage><epage>38</epage><pages>33-38</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><abstract>All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype–genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype. Hum Mutat 12:33–38, 1998. © 1998 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>9633817</pmid><doi>10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Bulgaria Bulgarian families Chromosomes, Human, Pair 5 Cyclic AMP Response Element-Binding Protein Female Gene Deletion Genotype Humans Male Muscular Atrophy, Spinal - genetics NAIP Nerve Tissue Proteins - genetics Neuronal Apoptosis-Inhibitory Protein Pedigree Phenotype RNA-Binding Proteins SMA SMN SMN Complex Proteins |
| title | Deletion analysis of Bulgarian SMA families |
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