{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:58Z","timestamp":1753869718992,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T00:00:00Z","timestamp":1647302400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (<jats:italic>SMN1<\/jats:italic>) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of ~1:50), SMA is one of the most common severe childhood\u2010onset diseases; therefore, current guidelines recommend pan\u2010ethnic carrier screening for SMA before or during pregnancy.<\/jats:p><jats:p>Routine <jats:italic>SMN1<\/jats:italic> copy number assessment detects ~96% of all SMA carriers, but not the remaining 4% who harbor two copies of <jats:italic>SMN1<\/jats:italic> arrayed in \u2010cis [2\u00a0+\u00a00]. The c.*3+80T&gt;G risk\u2010modifying SNP positively correlates with this chromosomal configuration and may be used to modify the residual risk of being a carrier for SMA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>One year after incorporating the detection of the c.*3+80&gt;G risk\u2010modifying SNP into our routine SMA carrier screen, we perform a retrospective chart review to evaluate its frequency and utilization in the prenatal clinic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In comparison with classic carriers for SMA, study data show that individuals with two copies of <jats:italic>SMN1<\/jats:italic> and the risk modifier were counseled less frequently about their increased risk of being a carrier for SMA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Incorporating the c.*3+80T&gt;G risk\u2010modifying SNP is important for detecting carriers for SMA with a higher clinical sensitivity.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1897","type":"journal-article","created":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T07:53:21Z","timestamp":1647330801000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The clinical utility of a risk\u2010modifying <scp>SNP<\/scp> to detect carriers for spinal muscular atrophy with increased sensitivity"],"prefix":"10.1002","volume":"10","author":[{"given":"Gardenier","family":"Ware","sequence":"first","affiliation":[{"name":"James Molecular Laboratory The Ohio State University James Cancer Center  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecelia","family":"Miller","sequence":"additional","affiliation":[{"name":"James Molecular Laboratory The Ohio State University James Cancer Center  Columbus Ohio USA"},{"name":"Department of Pathology The Ohio State University Wexner Medical Center  Columbus Ohio USA"},{"name":"The James Comprehensive Cancer Center The Ohio State Wexner Medical Center  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Jones","sequence":"additional","affiliation":[{"name":"James Molecular Laboratory The Ohio State University James Cancer Center  Columbus Ohio USA"},{"name":"Department of Pathology The Ohio State University Wexner Medical Center  Columbus Ohio USA"},{"name":"The James Comprehensive Cancer Center The Ohio State Wexner Medical Center  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9516-5163","authenticated-orcid":false,"given":"Matthew","family":"Avenarius","sequence":"additional","affiliation":[{"name":"James Molecular Laboratory The Ohio State University James Cancer Center  Columbus Ohio USA"},{"name":"Department of Pathology The Ohio State University Wexner Medical Center  Columbus Ohio USA"},{"name":"The James Comprehensive Cancer Center The Ohio State Wexner Medical Center  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,3,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0193-4"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2670"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/513886"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066969"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.114"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60921-6"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.84"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00004"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/515465"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318220d523"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30251"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001952"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302369"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1897","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1897","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1897","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T09:46:48Z","timestamp":1692956808000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1897"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,15]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1002\/mgg3.1897"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1897","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2022,3,15]]},"assertion":[{"value":"2021-11-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1897"}}