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Most\n                      <jats:italic>FBN1<\/jats:italic>\n                      mutations are missense or nonsense mutations. Traditional molecular genetic testing for the\n                      <jats:italic>FBN1<\/jats:italic>\n                      gene, like Sanger sequencing, may miss disease-causing mutations in the gene\u2019s regulatory regions or non-coding sequences, as well as partial or complete gene deletions and duplications.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Next-generation sequencing, multiplex ligation-dependent probe amplification and gap PCR were conducted on two MFS patients to screen for disease-causing mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified two large deletions in\n                      <jats:italic>FBN1<\/jats:italic>\n                      from two MFS patients. One patient had a 0.23\u2009Mb deletion (NC_000015.9:g.48550506_48779360del) including 5\u2019UTR-exon6 of\n                      <jats:italic>FBN1<\/jats:italic>\n                      . The other patient harbored a 1416\u2009bp deletion (NC_000015.9:g.48410869_48412284del) affecting the last exon, exon 66, of the\n                      <jats:italic>FBN1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our results expanded the number of large\n                      <jats:italic>FBN1<\/jats:italic>\n                      deletions and highlighted the importance of screening for large deletions in\n                      <jats:italic>FBN1<\/jats:italic>\n                      in clinical genetic testing, especially for those with the classic MFS phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12920-024-01822-w","type":"journal-article","created":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T04:02:19Z","timestamp":1707105739000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification"],"prefix":"10.1186","volume":"17","author":[{"given":"Xinxin","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingjie","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiying","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xijun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan\u2019an","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,5]]},"reference":[{"key":"1822_CR1","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1146\/annurev.med.51.1.481","volume":"51","author":"RE Pyeritz","year":"2000","unstructured":"Pyeritz RE. 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