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Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype
Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of motor neurons and muscle weakness and atrophy. The majority of patients harbor homozygous SMN1 deletions, resulting in an SMN1 -null genotype. A variable number of copies of SMN2 , the centromeric copy of SMN1 , fai...
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| Published in: | Journal of molecular neuroscience 2015-05, Vol.56 (1), p.212-215 |
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| Main Authors: | , , , , , , , |
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| container_title | Journal of molecular neuroscience |
| container_volume | 56 |
| creator | Ronchi, Dario Previtali, Stefano Carlo Sora, Maria Grazia Natali Barera, Graziano Del Menico, Benedetta Corti, Stefania Bresolin, Nereo Comi, Giacomo Pietro |
| description | Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of motor neurons and muscle weakness and atrophy. The majority of patients harbor homozygous
SMN1
deletions, resulting in an
SMN1
-null genotype. A variable number of copies of
SMN2
, the centromeric copy of
SMN1
, fails to compensate for the absence of
SMN1
but can act as a modifier. Less than 5 % of patients with SMA display intragenic mutations on the second allele, detectable by direct sequencing. The effects of these mutations are not easily predictable, hindering a clear correlation with the clinical phenotype. We describe a novel
SMN1
mutation that affected the donor splice site of exon 7 and resulted in an unusually severe SMA phenotype with rapid fatal outcome in an Italian infant. |
| doi_str_mv | 10.1007/s12031-014-0483-4 |
| format | article |
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SMN1
deletions, resulting in an
SMN1
-null genotype. A variable number of copies of
SMN2
, the centromeric copy of
SMN1
, fails to compensate for the absence of
SMN1
but can act as a modifier. Less than 5 % of patients with SMA display intragenic mutations on the second allele, detectable by direct sequencing. The effects of these mutations are not easily predictable, hindering a clear correlation with the clinical phenotype. We describe a novel
SMN1
mutation that affected the donor splice site of exon 7 and resulted in an unusually severe SMA phenotype with rapid fatal outcome in an Italian infant.</description><identifier>ISSN: 0895-8696</identifier><identifier>EISSN: 1559-1166</identifier><identifier>DOI: 10.1007/s12031-014-0483-4</identifier><identifier>PMID: 25572663</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Atrophy ; Biomedical and Life Sciences ; Biomedicine ; Cell Biology ; Exons ; Genetic disorders ; Genotype & phenotype ; Humans ; Infant ; Kinases ; Male ; Medical prognosis ; Muscular Atrophy, Spinal - diagnosis ; Muscular Atrophy, Spinal - genetics ; Mutation ; Neurochemistry ; Neurology ; Neurosciences ; Patients ; Phenotype ; Proteomics ; Survival of Motor Neuron 1 Protein - genetics</subject><ispartof>Journal of molecular neuroscience, 2015-05, Vol.56 (1), p.212-215</ispartof><rights>Springer Science+Business Media New York 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c442t-c865aa45e4a5b69e8585c5890d3abefccc9c2dcf71c6ed874ca04aa2619e54c33</citedby><cites>FETCH-LOGICAL-c442t-c865aa45e4a5b69e8585c5890d3abefccc9c2dcf71c6ed874ca04aa2619e54c33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25572663$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ronchi, Dario</creatorcontrib><creatorcontrib>Previtali, Stefano Carlo</creatorcontrib><creatorcontrib>Sora, Maria Grazia Natali</creatorcontrib><creatorcontrib>Barera, Graziano</creatorcontrib><creatorcontrib>Del Menico, Benedetta</creatorcontrib><creatorcontrib>Corti, Stefania</creatorcontrib><creatorcontrib>Bresolin, Nereo</creatorcontrib><creatorcontrib>Comi, Giacomo Pietro</creatorcontrib><title>Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype</title><title>Journal of molecular neuroscience</title><addtitle>J Mol Neurosci</addtitle><addtitle>J Mol Neurosci</addtitle><description>Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of motor neurons and muscle weakness and atrophy. The majority of patients harbor homozygous
SMN1
deletions, resulting in an
SMN1
-null genotype. A variable number of copies of
SMN2
, the centromeric copy of
SMN1
, fails to compensate for the absence of
SMN1
but can act as a modifier. Less than 5 % of patients with SMA display intragenic mutations on the second allele, detectable by direct sequencing. The effects of these mutations are not easily predictable, hindering a clear correlation with the clinical phenotype. We describe a novel
SMN1
mutation that affected the donor splice site of exon 7 and resulted in an unusually severe SMA phenotype with rapid fatal outcome in an Italian infant.</description><subject>Atrophy</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cell Biology</subject><subject>Exons</subject><subject>Genetic disorders</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Infant</subject><subject>Kinases</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Muscular Atrophy, Spinal - diagnosis</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>Mutation</subject><subject>Neurochemistry</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Proteomics</subject><subject>Survival of Motor Neuron 1 Protein - genetics</subject><issn>0895-8696</issn><issn>1559-1166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><recordid>eNp1kE1LAzEQhoMotlZ_gBcJePESTbJJNjmW4keh1UL1HNLs1G7Z7tbNbqX_3pRWEcHTHOZ53xkehC4ZvWWUpneBcZowQpkgVOiEiCPUZVIawphSx6hLtZFEK6M66CyEJaWcCaZPUYdLmXKlki6aPFcbKPB0XeQeyDRvAI_bxjV5VeK8xNPxM8P9ECqfuwYy_Jk3C-zwBuotnkIcEJE-GeLJAsqq2a7hHJ3MXRHg4jB76O3h_nXwREYvj8NBf0S8ELwhXivpnJAgnJwpA1pq6aU2NEvcDObee-N55ucp8woynQrvqHCOK2ZACp8kPXSz713X1UcLobGrPHgoCldC1QYbDRidqFTt0Os_6LJq6zJ-t6N0IgxnMlJsT_m6CqGGuV3X-crVW8uo3em2e9026rY73VbEzNWhuZ2tIPtJfPuNAN8DIa7Kd6h_nf639QsUPoi-</recordid><startdate>20150501</startdate><enddate>20150501</enddate><creator>Ronchi, Dario</creator><creator>Previtali, Stefano Carlo</creator><creator>Sora, Maria Grazia Natali</creator><creator>Barera, Graziano</creator><creator>Del Menico, Benedetta</creator><creator>Corti, Stefania</creator><creator>Bresolin, Nereo</creator><creator>Comi, Giacomo Pietro</creator><general>Springer US</general><general>Springer Nature 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>3V.</scope><scope>7QL</scope><scope>7QR</scope><scope>7T7</scope><scope>7TK</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M7N</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20150501</creationdate><title>Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype</title><author>Ronchi, Dario ; Previtali, Stefano Carlo ; Sora, Maria Grazia Natali ; Barera, Graziano ; Del Menico, Benedetta ; Corti, Stefania ; Bresolin, Nereo ; Comi, Giacomo Pietro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c442t-c865aa45e4a5b69e8585c5890d3abefccc9c2dcf71c6ed874ca04aa2619e54c33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Atrophy</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cell Biology</topic><topic>Exons</topic><topic>Genetic disorders</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Infant</topic><topic>Kinases</topic><topic>Male</topic><topic>Medical prognosis</topic><topic>Muscular Atrophy, Spinal - diagnosis</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>Mutation</topic><topic>Neurochemistry</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Proteomics</topic><topic>Survival of Motor Neuron 1 Protein - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ronchi, Dario</creatorcontrib><creatorcontrib>Previtali, Stefano Carlo</creatorcontrib><creatorcontrib>Sora, Maria Grazia Natali</creatorcontrib><creatorcontrib>Barera, Graziano</creatorcontrib><creatorcontrib>Del Menico, Benedetta</creatorcontrib><creatorcontrib>Corti, Stefania</creatorcontrib><creatorcontrib>Bresolin, Nereo</creatorcontrib><creatorcontrib>Comi, Giacomo Pietro</creatorcontrib><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>Bacteriology Abstracts (Microbiology B)</collection><collection>Chemoreception Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</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)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</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>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</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>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of molecular neuroscience</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ronchi, Dario</au><au>Previtali, Stefano Carlo</au><au>Sora, Maria Grazia Natali</au><au>Barera, Graziano</au><au>Del Menico, Benedetta</au><au>Corti, Stefania</au><au>Bresolin, Nereo</au><au>Comi, Giacomo Pietro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype</atitle><jtitle>Journal of molecular neuroscience</jtitle><stitle>J Mol Neurosci</stitle><addtitle>J Mol Neurosci</addtitle><date>2015-05-01</date><risdate>2015</risdate><volume>56</volume><issue>1</issue><spage>212</spage><epage>215</epage><pages>212-215</pages><issn>0895-8696</issn><eissn>1559-1166</eissn><abstract>Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of motor neurons and muscle weakness and atrophy. The majority of patients harbor homozygous
SMN1
deletions, resulting in an
SMN1
-null genotype. A variable number of copies of
SMN2
, the centromeric copy of
SMN1
, fails to compensate for the absence of
SMN1
but can act as a modifier. Less than 5 % of patients with SMA display intragenic mutations on the second allele, detectable by direct sequencing. The effects of these mutations are not easily predictable, hindering a clear correlation with the clinical phenotype. We describe a novel
SMN1
mutation that affected the donor splice site of exon 7 and resulted in an unusually severe SMA phenotype with rapid fatal outcome in an Italian infant.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>25572663</pmid><doi>10.1007/s12031-014-0483-4</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0895-8696 |
| ispartof | Journal of molecular neuroscience, 2015-05, Vol.56 (1), p.212-215 |
| issn | 0895-8696 1559-1166 |
| language | eng |
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| source | Springer Nature |
| subjects | Atrophy Biomedical and Life Sciences Biomedicine Cell Biology Exons Genetic disorders Genotype & phenotype Humans Infant Kinases Male Medical prognosis Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - genetics Mutation Neurochemistry Neurology Neurosciences Patients Phenotype Proteomics Survival of Motor Neuron 1 Protein - genetics |
| title | Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype |
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