The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent
Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of...
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| creator | Vijzelaar, Raymon Snetselaar, Reinier Clausen, Martijn Mason, Amanda G Rinsma, Marrit Zegers, Marinka Molleman, Naomi Boschloo, Renske Yilmaz, Rizkat Kuilboer, Romy Lens, Sylvia Sulchan, Syamiroh Schouten, Jan |
| description | Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of the closely related SMN2 gene. In addition, an SMN variant lacking exons 7 and 8 has been reported in 8% and 23% of healthy Swedish and Spanish individuals respectively. We tested 1255 samples from the 1000 Genomes Project using a new version of the multiplex ligation-dependent probe amplification (MLPA) P021 probemix that covers each SMN exon. The SMN variant lacking exons 7 and 8 was present in up to 20% of individuals in several Caucasian populations, while being almost completely absent in various Asian and African populations. This SMN1/2Δ7-8 variant appears to be derived from an ancient deletion event as the deletion size is identical in 99% of samples tested. The average total copy number of SMN1, SMN2 and the SMN1/2Δ7-8 variant combined was remarkably comparable in all populations tested, ranging from 3.64 in Asian to 3.75 in African samples. |
| doi_str_mv | 10.1371/journal.pone.0220211 |
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In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of the closely related SMN2 gene. In addition, an SMN variant lacking exons 7 and 8 has been reported in 8% and 23% of healthy Swedish and Spanish individuals respectively. We tested 1255 samples from the 1000 Genomes Project using a new version of the multiplex ligation-dependent probe amplification (MLPA) P021 probemix that covers each SMN exon. The SMN variant lacking exons 7 and 8 was present in up to 20% of individuals in several Caucasian populations, while being almost completely absent in various Asian and African populations. This SMN1/2Δ7-8 variant appears to be derived from an ancient deletion event as the deletion size is identical in 99% of samples tested. The average total copy number of SMN1, SMN2 and the SMN1/2Δ7-8 variant combined was remarkably comparable in all populations tested, ranging from 3.64 in Asian to 3.75 in African samples.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0220211</identifier><identifier>PMID: 31339938</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Atrophy ; Biology and Life Sciences ; Cells, Cultured ; Copy number ; Degeneration ; DNA Copy Number Variations ; Ethnic Groups - genetics ; Ethnic Groups - statistics & numerical data ; Exons ; Exons - genetics ; Female ; Gene Frequency ; Genes ; Genetic aspects ; Genetic variation ; Genetics ; Genetics, Population ; Genomes ; Genomics ; Geography ; Humans ; Life expectancy ; Male ; Medical screening ; Medicine and Health Sciences ; Motor neurons ; Muscular atrophy ; Muscular Atrophy, Spinal - epidemiology ; Muscular Atrophy, Spinal - genetics ; Mutation ; Neuromuscular diseases ; Neurons ; People and Places ; Polymorphism, Genetic ; Population ; Populations ; Sequence Deletion ; SMN protein ; Spinal cord ; Spinal muscular atrophy ; Survival of Motor Neuron 1 Protein - genetics ; Survival of Motor Neuron 2 Protein - genetics</subject><ispartof>PloS one, 2019-07, Vol.14 (7), p.e0220211-e0220211</ispartof><rights>COPYRIGHT 2019 Public Library of Science</rights><rights>2019 Vijzelaar et al. 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In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of the closely related SMN2 gene. In addition, an SMN variant lacking exons 7 and 8 has been reported in 8% and 23% of healthy Swedish and Spanish individuals respectively. We tested 1255 samples from the 1000 Genomes Project using a new version of the multiplex ligation-dependent probe amplification (MLPA) P021 probemix that covers each SMN exon. The SMN variant lacking exons 7 and 8 was present in up to 20% of individuals in several Caucasian populations, while being almost completely absent in various Asian and African populations. This SMN1/2Δ7-8 variant appears to be derived from an ancient deletion event as the deletion size is identical in 99% of samples tested. The average total copy number of SMN1, SMN2 and the SMN1/2Δ7-8 variant combined was remarkably comparable in all populations tested, ranging from 3.64 in Asian to 3.75 in African samples.</description><subject>Atrophy</subject><subject>Biology and Life Sciences</subject><subject>Cells, Cultured</subject><subject>Copy number</subject><subject>Degeneration</subject><subject>DNA Copy Number Variations</subject><subject>Ethnic Groups - genetics</subject><subject>Ethnic Groups - statistics & numerical data</subject><subject>Exons</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic variation</subject><subject>Genetics</subject><subject>Genetics, Population</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Geography</subject><subject>Humans</subject><subject>Life expectancy</subject><subject>Male</subject><subject>Medical screening</subject><subject>Medicine and Health Sciences</subject><subject>Motor neurons</subject><subject>Muscular atrophy</subject><subject>Muscular Atrophy, Spinal - 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genetics</topic><topic>Ethnic Groups - statistics & numerical data</topic><topic>Exons</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic variation</topic><topic>Genetics</topic><topic>Genetics, Population</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Geography</topic><topic>Humans</topic><topic>Life expectancy</topic><topic>Male</topic><topic>Medical screening</topic><topic>Medicine and Health Sciences</topic><topic>Motor neurons</topic><topic>Muscular atrophy</topic><topic>Muscular Atrophy, Spinal - epidemiology</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>Mutation</topic><topic>Neuromuscular diseases</topic><topic>Neurons</topic><topic>People and Places</topic><topic>Polymorphism, Genetic</topic><topic>Population</topic><topic>Populations</topic><topic>Sequence Deletion</topic><topic>SMN protein</topic><topic>Spinal cord</topic><topic>Spinal muscular atrophy</topic><topic>Survival of Motor Neuron 1 Protein - 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In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of the closely related SMN2 gene. In addition, an SMN variant lacking exons 7 and 8 has been reported in 8% and 23% of healthy Swedish and Spanish individuals respectively. We tested 1255 samples from the 1000 Genomes Project using a new version of the multiplex ligation-dependent probe amplification (MLPA) P021 probemix that covers each SMN exon. The SMN variant lacking exons 7 and 8 was present in up to 20% of individuals in several Caucasian populations, while being almost completely absent in various Asian and African populations. This SMN1/2Δ7-8 variant appears to be derived from an ancient deletion event as the deletion size is identical in 99% of samples tested. The average total copy number of SMN1, SMN2 and the SMN1/2Δ7-8 variant combined was remarkably comparable in all populations tested, ranging from 3.64 in Asian to 3.75 in African samples.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>31339938</pmid><doi>10.1371/journal.pone.0220211</doi><tpages>e0220211</tpages><orcidid>https://orcid.org/0000-0002-4186-2083</orcidid><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2019-07, Vol.14 (7), p.e0220211-e0220211 |
| issn | 1932-6203 1932-6203 |
| language | eng |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS) Journals Open Access; EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Atrophy Biology and Life Sciences Cells, Cultured Copy number Degeneration DNA Copy Number Variations Ethnic Groups - genetics Ethnic Groups - statistics & numerical data Exons Exons - genetics Female Gene Frequency Genes Genetic aspects Genetic variation Genetics Genetics, Population Genomes Genomics Geography Humans Life expectancy Male Medical screening Medicine and Health Sciences Motor neurons Muscular atrophy Muscular Atrophy, Spinal - epidemiology Muscular Atrophy, Spinal - genetics Mutation Neuromuscular diseases Neurons People and Places Polymorphism, Genetic Population Populations Sequence Deletion SMN protein Spinal cord Spinal muscular atrophy Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 2 Protein - genetics |
| title | The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-22T07%3A56%3A22IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20frequency%20of%20SMN%20gene%20variants%20lacking%20exon%207%20and%208%20is%20highly%20population%20dependent&rft.jtitle=PloS%20one&rft.au=Vijzelaar,%20Raymon&rft.date=2019-07-24&rft.volume=14&rft.issue=7&rft.spage=e0220211&rft.epage=e0220211&rft.pages=e0220211-e0220211&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0220211&rft_dat=%3Cgale_plos_%3EA594395430%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2263616660&rft_id=info:pmid/31339938&rft_galeid=A594395430&rft_doaj_id=oai_doaj_org_article_fc64270b29534280b6ae5ab41d225fec&rfr_iscdi=true |