{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:35:45Z","timestamp":1792460145156,"version":"4.5.0"},"reference-count":63,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T00:00:00Z","timestamp":1769644800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Mol. Biosci."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Pompe disease (PD) is a rare inherited recessive autosomal disorder caused by pathogenic nucleotide variants within the gene\n                      <jats:italic>GAA<\/jats:italic>\n                      , encoding Acid alpha-glucosidase (GAA), the lysosomal enzyme catalyzing glycogen breakdown to glucose.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed molecular screening in a cohort of 15,068 participants with suspected PD of a wide range of age from several regions of Russia. Two screenings had been undertaken from 2014 to 2025, and 2021 to 2025, respectively: 13,128 patients were screened using \u201ctwo-tier one-gene\u201d algorithm (measurement of GAA activity in dried blood spots followed by Sanger sequencing of the GAA) and 1940 patients were screened using Next-Generation Sequencing (NGS)-based algorithm (NGS of the panel of genes linked to neuromuscular disorders,\n                      <jats:italic>ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCD, SGCG, TCAP<\/jats:italic>\n                      , and\n                      <jats:italic>GAA<\/jats:italic>\n                      , followed by measurement of GAA activity when needed).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      63 causative nucleotide variants in the\n                      <jats:italic>GAA<\/jats:italic>\n                      gene were detected, the most common being c.-32-13T&amp;gt;G (28 patients) followed by c.2662G&amp;gt;T (10 patients). 25 novel nucleotide variants in the\n                      <jats:italic>GAA<\/jats:italic>\n                      gene were described. Of 1,940 patients screened using an NGS-based algorithm, 138 patients (7.1%) were diagnosed with various muscular dystrophies, myopathies, or PD. The majority of these individuals had biallelic variants in the\n                      <jats:italic>CAPN3<\/jats:italic>\n                      gene (30%), indicative of calpainopathy. Total 57 (0.47%) and 8 (0.41%) patients were diagnosed with PD as a result of \u201ctwo-tier one-gene\u201d or NGS-based algorithms, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Overall, our study is the first large-scale country-wide selective screening for PD in Russia based on sequencing and GAA activity measurement and providing the most comprehensive overview of genetics of PD in this study population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmolb.2025.1745925","type":"journal-article","created":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T05:22:40Z","timestamp":1769664160000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants"],"prefix":"10.3389","volume":"12","author":[{"given":"Aleksander","family":"Pushkov","sequence":"first","affiliation":[{"name":"National Medical Research Center of Children\u2019s Health of the Ministry of Health of the Russian Federation Moscow Russia","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Chudakova","sequence":"additional","affiliation":[{"name":"National Medical Research Center of Children\u2019s Health of the Ministry of Health of the Russian Federation Moscow Russia","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilya","family":"Zhanin","sequence":"additional","affiliation":[{"name":"National Medical Research Center of Children\u2019s Health of the Ministry of Health of the Russian Federation Moscow Russia","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Nikitin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Basargina","sequence":"additional","affiliation":[{"name":"National Medical Research Center of Children\u2019s Health of the Ministry of Health of the Russian Federation Moscow Russia","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydmila","family":"Kuzenkova","sequence":"additional","affiliation":[{"name":"National Medical Research Center of Children\u2019s Health of the Ministry of Health of the Russian Federation Moscow Russia","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Andreeva","sequence":"additional","affiliation":[{"name":"Children\u2019s City Clinical Hospital \u211611 Yekaterinburg Russia","place":["Yekaterinburg, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Vasil\u2019eva","sequence":"additional","affiliation":[{"name":"Medical and Genetic Center of the State Budget Healthcare Institution Clinical Center for Family Health and Reproduction","place":["Novosibirsk, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Vasichkin","sequence":"additional","affiliation":[{"name":"Central Clinical Hospital with a Polyclinic of the Administration of the President of the Russian Federation","place":["Moscow, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albina","family":"Gabitova","sequence":"additional","affiliation":[{"name":"Republican Medical Genetic Center","place":["Ufa, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Gaisina","sequence":"additional","affiliation":[{"name":"Republican Medical Genetic Center","place":["Ufa, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Saifullina","sequence":"additional","affiliation":[{"name":"Republican Medical Genetic Center","place":["Ufa, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amina","family":"Gamzatova","sequence":"additional","affiliation":[{"name":"Republican Perinatal Center named after Omarov S.-M.A","place":["Makhachkala, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Gilvanova","sequence":"additional","affiliation":[{"name":"Moscow Clinical Scientific and Practical Center named after A. 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