{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T21:50:47Z","timestamp":1777931447544,"version":"3.51.4"},"reference-count":42,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T00:00:00Z","timestamp":1700006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100019779","name":"Qatar National Library","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019779","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in <jats:italic>SMN1<\/jats:italic> at exon 7. The carrier frequency for <jats:italic>SMN1<\/jats:italic> mutations ranges from 2 to 4% in the general population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of <jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic>, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The SMA carrier frequency was found to be (2.8%) and the rs143838139 was found in 491\/13426 (3.66%) of individuals. The SNP rs121909192, which is a pathogenic risk factor, was found in 321\/13500 (2.38%). In Addition 242\/11379 (2.13%) had two copies of <jats:italic>SMN1<\/jats:italic> and the rs143838139, which may explain the (2\u2009+\u20090) silent carrier. Additionally, two participants were found to be SMA type 4 with 0 and 4 copy numbers in <jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic>, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians. The likely pathogenic variant, rs121909192, was found to be significantly higher when compering with other in our study. The rs143838139 variant, which has a strong association with the silent carrier genotype, has been found. Consequently, testing for this SNP may enhance the precision of evaluating the likelihood of a patient having an affected child. We conclude that the frequency of SMA carriers varies within the Qatar population and other ethnic groups.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2184","type":"journal-article","created":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T21:01:38Z","timestamp":1700082098000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0431-5744","authenticated-orcid":false,"given":"Faisal","family":"Ibrahim","sequence":"first","affiliation":[{"name":"Diagnostic Genetics Division (DGD), Department of Laboratory Medicine and Pathology (DLMP) Hamad Medical Corporation (HMC)  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Velayutham","sequence":"additional","affiliation":[{"name":"Liberal Arts and Science Hamad Bin Khalifa University (HBKU)  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Alsharshani","sequence":"additional","affiliation":[{"name":"Diagnostic Genetics Division (DGD), Department of Laboratory Medicine and Pathology (DLMP) Hamad Medical Corporation (HMC)  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Usama","family":"AlAlami","sequence":"additional","affiliation":[{"name":"School of Life Science Manipal Academy of Higher Education (MAHE)  Dubai UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manar","family":"AlDewik","sequence":"additional","affiliation":[{"name":"Department of Research and Translational and Precision Medicine Research Lab Women's Wellness and Research Center, Hamad Medical Corporation  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4883-2543","authenticated-orcid":false,"given":"Tala","family":"Abuarja","sequence":"additional","affiliation":[{"name":"Department of Research and Translational and Precision Medicine Research Lab Women's Wellness and Research Center, Hamad Medical Corporation  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilal","family":"Al\u00a0Rifai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology, Neonatal Intensive Care Unit, Newborn Screening Unit, Women's Wellness and Research Center Hamad Medical Corporation  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5739-1135","authenticated-orcid":false,"given":"Nader I.","family":"Al\u2010Dewik","sequence":"additional","affiliation":[{"name":"Department of Research and Translational and Precision Medicine Research Lab Women's Wellness and Research Center, Hamad Medical Corporation  Doha Qatar"},{"name":"Department of Pediatrics and Neonatology, Neonatal Intensive Care Unit, Newborn Screening Unit, Women's Wellness and Research Center Hamad Medical Corporation  Doha Qatar"},{"name":"Translational Research Institute (TRI) Hamad Medical Corporation (HMC)  Doha Qatar"},{"name":"Genomics and Precision Medicine (GPM), College of Health &amp; Life Science (CHLS) Hamad Bin Khalifa University (HBKU)  Doha Qatar"},{"name":"College of Health and Life Sciences Hamad Bin Khalifa University, Education City  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,15]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2049"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.474"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/3807032"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/pr10061107"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010008\u20100598\u20101"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10221"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.08.011"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.3595"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1051"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<463::AID-AJMG6>3.0.CO;2-V"},{"issue":"6","key":"e_1_2_13_12_1","first-page":"559","article-title":"Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy","volume":"22","author":"Chen W. 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