Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China
To define the relationship between the survival motor neuron 1 gene (SMN1) and SMN2, and explore the variability of these two genes within the generations, SMN1 and SMN2 copy numbers were determined for 227 SMA families. The association analysis indicated that there was a negative correlation betwee...
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| Veröffentlicht in: | Journal of human genetics 2020-05, Vol.65 (5), p.469-473 |
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| container_title | Journal of human genetics |
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| creator | Cao, Yanyan Qu, Yujin Bai, Jinli Cheng, Miaomiao Jin, Yuwei Wang, Hong Song, Fang |
| description | To define the relationship between the survival motor neuron 1 gene (SMN1) and SMN2, and explore the variability of these two genes within the generations, SMN1 and SMN2 copy numbers were determined for 227 SMA families. The association analysis indicated that there was a negative correlation between the copy number of SMN1 and SMN2 (Spearman = -0.472, P |
| doi_str_mv | 10.1038/s10038-020-0730-1 |
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The association analysis indicated that there was a negative correlation between the copy number of SMN1 and SMN2 (Spearman = -0.472, P < 0.001) in 227 SMA children and 454 of their parents. The average SMN copies from father and mother in each SMA family were used to represent the copy number in the parent's generation. Subsequently, SMN transmission analysis showed that the similar distribution trend of SMN1 and SMN2 copy number was not only in the SMA children and their parents' generation but also in the non-SMA families. Moreover, when the SMN2 copy number was one in the parent's generation, 75% of their SMA children had type I and 25% of them had type II/III. However, when the SMN2 copies were three in the parent's generation, all of their SMA children were type II/III. Therefore, the diversity of SMN copies was mostly inherited and the SMN2 copy number in the parent's generation could predict the disease severity of SMA children to some extent.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/s10038-020-0730-1</identifier><identifier>PMID: 32051521</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Association analysis ; Atrophy ; Child ; Children ; China ; Copy number ; Families & family life ; Family ; Gene Dosage ; Genes ; Genetics ; Genotype & phenotype ; Humans ; Male ; Neuromuscular diseases ; Parents & parenting ; Pediatrics ; SMN protein ; Spinal Muscular Atrophies of Childhood - genetics ; Spinal Muscular Atrophies of Childhood - pathology ; Spinal muscular atrophy ; Survival of Motor Neuron 1 Protein - genetics ; Survival of Motor Neuron 2 Protein - genetics</subject><ispartof>Journal of human genetics, 2020-05, Vol.65 (5), p.469-473</ispartof><rights>2020© The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020</rights><rights>The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c403t-402543d5b49b23538a19853a834bef6dbabdfbaebf165da07d9a4286b63ce6433</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32051521$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cao, Yanyan</creatorcontrib><creatorcontrib>Qu, Yujin</creatorcontrib><creatorcontrib>Bai, Jinli</creatorcontrib><creatorcontrib>Cheng, Miaomiao</creatorcontrib><creatorcontrib>Jin, Yuwei</creatorcontrib><creatorcontrib>Wang, Hong</creatorcontrib><creatorcontrib>Song, Fang</creatorcontrib><title>Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><description>To define the relationship between the survival motor neuron 1 gene (SMN1) and SMN2, and explore the variability of these two genes within the generations, SMN1 and SMN2 copy numbers were determined for 227 SMA families. The association analysis indicated that there was a negative correlation between the copy number of SMN1 and SMN2 (Spearman = -0.472, P < 0.001) in 227 SMA children and 454 of their parents. The average SMN copies from father and mother in each SMA family were used to represent the copy number in the parent's generation. Subsequently, SMN transmission analysis showed that the similar distribution trend of SMN1 and SMN2 copy number was not only in the SMA children and their parents' generation but also in the non-SMA families. Moreover, when the SMN2 copy number was one in the parent's generation, 75% of their SMA children had type I and 25% of them had type II/III. However, when the SMN2 copies were three in the parent's generation, all of their SMA children were type II/III. Therefore, the diversity of SMN copies was mostly inherited and the SMN2 copy number in the parent's generation could predict the disease severity of SMA children to some extent.</description><subject>Association analysis</subject><subject>Atrophy</subject><subject>Child</subject><subject>Children</subject><subject>China</subject><subject>Copy number</subject><subject>Families & family life</subject><subject>Family</subject><subject>Gene Dosage</subject><subject>Genes</subject><subject>Genetics</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Male</subject><subject>Neuromuscular diseases</subject><subject>Parents & parenting</subject><subject>Pediatrics</subject><subject>SMN protein</subject><subject>Spinal Muscular Atrophies of Childhood - genetics</subject><subject>Spinal Muscular Atrophies of Childhood - pathology</subject><subject>Spinal muscular atrophy</subject><subject>Survival of Motor Neuron 1 Protein - genetics</subject><subject>Survival of Motor Neuron 2 Protein - genetics</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpdkU2LFDEQhoMo7of-AC8S8OKl3Uoq6Y-LIIOuwq4eXEHwECrptJOluzMm3Qv778046-J6qkCeeqmqh7EXAt4IwPYsCyilAgkVNAiVeMSOhUJdSZTfH_95q0qLWhyxk5yvodCykU_ZEUrQQktxzH5cJZrzFHIOceZuS4nc4lPIS3CZx4F_vfzMhxQnLmXD8y7MNPJpzW4dKXFaUtxtb7mLyfOBpjAGn3mY-WZbwGfsyUBj9s_v6in79uH91eZjdfHl_NPm3UXlFOBSKZBaYa-t6qxEjS2JrtVILSrrh7q3ZPvBkreDqHVP0PQdKdnWtkbna4V4yt4ecnernXzv_LwkGs0uhYnSrYkUzMOfOWzNz3hjGgEdgC4Br-8CUvy1-ryYchDnx5FmH9dsylSqwQ7VHn31H3od11SOsqda1YJUUBdKHCiXYs7JD_fDCDB7deagzhR1Zq_OiNLz8t8t7jv-usLfn5CU3w</recordid><startdate>20200501</startdate><enddate>20200501</enddate><creator>Cao, Yanyan</creator><creator>Qu, Yujin</creator><creator>Bai, Jinli</creator><creator>Cheng, Miaomiao</creator><creator>Jin, Yuwei</creator><creator>Wang, Hong</creator><creator>Song, Fang</creator><general>Nature Publishing Group</general><general>Springer Singapore</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>7X7</scope><scope>7XB</scope><scope>88E</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>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20200501</creationdate><title>Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China</title><author>Cao, Yanyan ; Qu, Yujin ; Bai, Jinli ; Cheng, Miaomiao ; Jin, Yuwei ; Wang, Hong ; Song, Fang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c403t-402543d5b49b23538a19853a834bef6dbabdfbaebf165da07d9a4286b63ce6433</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Association analysis</topic><topic>Atrophy</topic><topic>Child</topic><topic>Children</topic><topic>China</topic><topic>Copy number</topic><topic>Families & family life</topic><topic>Family</topic><topic>Gene Dosage</topic><topic>Genes</topic><topic>Genetics</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Male</topic><topic>Neuromuscular diseases</topic><topic>Parents & parenting</topic><topic>Pediatrics</topic><topic>SMN protein</topic><topic>Spinal Muscular Atrophies of Childhood - genetics</topic><topic>Spinal Muscular Atrophies of Childhood - pathology</topic><topic>Spinal muscular atrophy</topic><topic>Survival of Motor Neuron 1 Protein - genetics</topic><topic>Survival of Motor Neuron 2 Protein - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cao, Yanyan</creatorcontrib><creatorcontrib>Qu, Yujin</creatorcontrib><creatorcontrib>Bai, Jinli</creatorcontrib><creatorcontrib>Cheng, Miaomiao</creatorcontrib><creatorcontrib>Jin, Yuwei</creatorcontrib><creatorcontrib>Wang, Hong</creatorcontrib><creatorcontrib>Song, Fang</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>Health & Medical Complete (ProQuest Database)</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</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>Biological Sciences</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Biological Science Database</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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cao, Yanyan</au><au>Qu, Yujin</au><au>Bai, Jinli</au><au>Cheng, Miaomiao</au><au>Jin, Yuwei</au><au>Wang, Hong</au><au>Song, Fang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China</atitle><jtitle>Journal of human genetics</jtitle><addtitle>J Hum Genet</addtitle><date>2020-05-01</date><risdate>2020</risdate><volume>65</volume><issue>5</issue><spage>469</spage><epage>473</epage><pages>469-473</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>To define the relationship between the survival motor neuron 1 gene (SMN1) and SMN2, and explore the variability of these two genes within the generations, SMN1 and SMN2 copy numbers were determined for 227 SMA families. The association analysis indicated that there was a negative correlation between the copy number of SMN1 and SMN2 (Spearman = -0.472, P < 0.001) in 227 SMA children and 454 of their parents. The average SMN copies from father and mother in each SMA family were used to represent the copy number in the parent's generation. Subsequently, SMN transmission analysis showed that the similar distribution trend of SMN1 and SMN2 copy number was not only in the SMA children and their parents' generation but also in the non-SMA families. Moreover, when the SMN2 copy number was one in the parent's generation, 75% of their SMA children had type I and 25% of them had type II/III. However, when the SMN2 copies were three in the parent's generation, all of their SMA children were type II/III. Therefore, the diversity of SMN copies was mostly inherited and the SMN2 copy number in the parent's generation could predict the disease severity of SMA children to some extent.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>32051521</pmid><doi>10.1038/s10038-020-0730-1</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Association analysis Atrophy Child Children China Copy number Families & family life Family Gene Dosage Genes Genetics Genotype & phenotype Humans Male Neuromuscular diseases Parents & parenting Pediatrics SMN protein Spinal Muscular Atrophies of Childhood - genetics Spinal Muscular Atrophies of Childhood - pathology Spinal muscular atrophy Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 2 Protein - genetics |
| title | Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China |
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