{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:05:14Z","timestamp":1790168714088,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T00:00:00Z","timestamp":1788652800000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Fragile X syndrome (FXS) is a common inherited intellectual disability. In this study, long\u2010read sequencing was used for the\n                      <jats:italic>FMR1<\/jats:italic>\n                      gene detection.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Men with familial inherited intellectual disability and women with indications for FXS screening were defined as high\u2010risk populations and were included in this study along with non\u2010high\u2010risk reproductive\u2010aged women. PCR\u2010capillary electrophoresis was used for preliminary screening of non\u2010high\u2010risk reproductive\u2010aged women, and long\u2010read sequencing was performed on abnormal samples and samples from high\u2010risk populations. Prenatal diagnosis using long\u2010read sequencing was performed for pregnant women in need.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The prevalence of mutation in high\u2010risk females was 3.10% (7\/226). 3 mutations were detected in male samples, with a mutation ratio of approximately 8.3% (3\/36). The three most common CGG repeats were 29, 30, and 36, respectively. Analysis of AGG interruption pattern in 242 samples identified 908 AGG interruptions, involving 67 different patterns. The most frequent AGG interruption pattern was (CGG)\n                      <jats:sub>9<\/jats:sub>\n                      AGG(CGG)\n                      <jats:sub>9<\/jats:sub>\n                      AGG(CGG)\n                      <jats:sub>9<\/jats:sub>\n                      . Furthermore, long\u2010read sequencing was successfully applied for prenatal diagnosis in two pregnant women, and dynamic mutation of CGG repeat was detected within one family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Long\u2010read sequencing\u2010based assay cannot only accurately detect CGG repeat and AGG interruption, but also simultaneously identify other abnormalities of the\n                      <jats:italic>FMR1<\/jats:italic>\n                      gene. Long\u2010read sequencing offers a broader detection scope and better characterization of FXS\u2010related genetic features.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70290","type":"journal-article","created":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T06:55:47Z","timestamp":1788764147000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Application of Long\u2010Read Sequencing for\n                    <scp>\n                      <i>FMR1<\/i>\n                    <\/scp>\n                    Gene Mutation Detection in Populations From Shandong, China"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7991-7564","authenticated-orcid":false,"given":"Yan","family":"Li","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital)  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital)  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Shan","sequence":"additional","affiliation":[{"name":"Medical Research Center Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital)  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital)  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital)  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,6]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e3181fae884"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.12809\/hkmj2411942"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajhb.20705"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.185"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104010"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050450"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20108628(19960712)64:1<216::AID\u2010AJMG39>3.0.CO;2\u2010O"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010017\u20100355\u2010y"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32261"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994\u201088"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1515\/mr\u20102024\u20100060"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2009.136101"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/386296"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.65"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2023.117614"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36511"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.291.4.460"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2022.05.001"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2021.06.008"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvac154"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.12740\/PP\/65778"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvac046"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn511374\u201020200513\u201000344"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10572"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.61"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/367713"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.106"},{"issue":"6","key":"e_1_2_13_29_1","first-page":"1252","article-title":"Familial Transmission of the FMR1 CGG Repeat","volume":"59","author":"Nolin S. 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