{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:42:21Z","timestamp":1778643741471,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T00:00:00Z","timestamp":1738627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Spinal muscular atrophy 5q (5q SMA) is one of the most prevalent autosomal recessive disorders globally. The underlying cause of 5q SMA is attributed to variants in\n                    <jats:italic>SMN1<\/jats:italic>\n                    . Exon 7 of\n                    <jats:italic>SMN1<\/jats:italic>\n                    is not detectable in major of probands with 5q SMA, and minor of probands have a combination of the deletion and an intragenic subtle variant in the second allele. From 1991 to 2023, DNA samples from 2796 probands representing unrelated families were analyzed at the Research Centre for Medical Genetics for the diagnosis of 5q SMA. The copy number of Exon 7 of\n                    <jats:italic>SMN1<\/jats:italic>\n                    and\n                    <jats:italic>SMN2<\/jats:italic>\n                    was determined for all probands by MLPA. Subsequently, direct automated Sanger sequencing was employed to perform intragenic subtle variant screenings in all 116 probands with one copy of Exon 7 of\n                    <jats:italic>SMN1<\/jats:italic>\n                    . The diagnosis of 5q SMA was confirmed in 1495 probands. Among the 41 probands with one copy of Exon 7 of\n                    <jats:italic>SMN1<\/jats:italic>\n                    from the initial 116 tested, 24 intragenic subtle variants in\n                    <jats:italic>SMN1\/SMN2<\/jats:italic>\n                    were documented. The aim of this study was to identify and characterize intragenic subtle variants in\n                    <jats:italic>SMN1<\/jats:italic>\n                    and analyze their relationship with clinical manifestations in probands with 5q SMA in the Russian cohort.\n                  <\/jats:p>","DOI":"10.1111\/cge.14714","type":"journal-article","created":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T23:53:26Z","timestamp":1738713206000},"page":"58-68","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Rare Cause 5q\n                    <scp>SMA<\/scp>\n                    : Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the\n                    <scp>SMN<\/scp>\n                    Locus"],"prefix":"10.1111","volume":"108","author":[{"given":"Kristina","family":"Mikhalchuk","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viktoria","family":"Zabnenkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Braslavskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alena","family":"Chukhrova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Ryadninskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Dadaly","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8244-9367","authenticated-orcid":false,"given":"Galina","family":"Rudenskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inna","family":"Sharkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inga","family":"Anisimova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludmila","family":"Bessonova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Mishina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Repina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Petukhova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Sparber","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kuchina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry","family":"Saushev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Artemieva","sequence":"additional","affiliation":[{"name":"Russian Children Neuromuscular Center Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8886-5222","authenticated-orcid":false,"given":"Sergey","family":"Kurbatov","sequence":"additional","affiliation":[{"name":"Research Institute of Experimental Biology and Medicine Voronezh State Medical University Named After N.N. Burdenko  Voronezh Russia"},{"name":"Saratov State Medical University  Saratov Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilya","family":"Kanivets","sequence":"additional","affiliation":[{"name":"Genomed LLC  Moscow Russia"},{"name":"FSBEI FPE RMACPE MOH Russia  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Zarubina","sequence":"additional","affiliation":[{"name":"Morozov Children's City Clinical Hospital  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daria","family":"Barykova","sequence":"additional","affiliation":[{"name":"State Budgetary Healthcare Institution Irkutsk Order of the Badge Regional Clinical Hospital  Irkutsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina","family":"Lisakonova","sequence":"additional","affiliation":[{"name":"Docdeti LLC  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Polyakov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Shchagina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,4]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/344540a0"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns9020029"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2024.04.015"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns10010009"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20092"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814521297"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031\u2010020\u201001789\u20100"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.04.003"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.03.003"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000505"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010020\u201001069\u2010z"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010008\u20100598\u20101"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.7868\/S0016675815080123"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_16_1","unstructured":"SpliceAI https:\/\/spliceailookup.broadinstitute.org\/ accessed November 7 2024."},{"key":"e_1_2_11_17_1","unstructured":"SPiP https:\/\/sourceforge.net\/projects\/splicing\u2010prediction\u2010pipeline\/ accessed November 7 2024."},{"key":"e_1_2_11_18_1","unstructured":"MMSplice https:\/\/github.com\/gagneurlab\/MMSplice_MTSplice accessed November 7 2024."},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.11.009"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/302369"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2021.03.006"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20111"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072\u2010024\u201007651\u20100"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1195\u2010335"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092\u20108674(95)90460\u20103"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.821"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.3.497"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010020\u201002199\u20103"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/302160"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.06.002"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14714","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T06:27:33Z","timestamp":1762928853000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14714"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,4]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/cge.14714"],"URL":"https:\/\/doi.org\/10.1111\/cge.14714","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,4]]},"assertion":[{"value":"2024-12-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}