{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:53:13Z","timestamp":1786978393091,"version":"build-2736575974"},"reference-count":49,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171398"],"award-info":[{"award-number":["82171398"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271437"],"award-info":[{"award-number":["82271437"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["20S31904200"],"award-info":[{"award-number":["20S31904200"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>\n                      GNE myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the\n                      <jats:italic>GNE<\/jats:italic>\n                      gene, which is essential for the sialic acid biosynthesis pathway. Although over 300\n                      <jats:italic>GNE<\/jats:italic>\n                      variants have been reported, some patients remain undiagnosed with monoallelic pathogenic variants. This study aims to analyze the entire\n                      <jats:italic>GNE<\/jats:italic>\n                      genomic region to identify novel pathogenic variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Patients with clinically compatible GNE myopathy and monoallelic pathogenic variants in the\n                      <jats:italic>GNE<\/jats:italic>\n                      gene were enrolled. The other\n                      <jats:italic>GNE<\/jats:italic>\n                      pathogenic variant was verified using comprehensive methods including exon 2 quantitative polymerase chain reaction and nanopore long\u2010read single\u2010molecule sequencing (LRS).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A deep intronic\n                      <jats:italic>GNE<\/jats:italic>\n                      variant, c.862+870C&gt;T, was identified in nine patients from eight unrelated families. This variant generates a cryptic splice site, resulting in the activation of a novel pseudoexon between exons 5 and 6. It results in the insertion of an extra 146 nucleotides into the messengerRNA (mRNA), which is predicted to result in a truncated humanGNE1(hGNE1) protein. Peanut agglutinin\uff08PNA\uff09 lectin staining of muscle tissues showed reduced sialylation of mucin O\u2010glycans on sarcolemmal glycoproteins. Notably, a third of patients with the c.862+870C&gt;T variant exhibited thrombocytopenia. A common core haplotype harboring the deep intronic\n                      <jats:italic>GNE<\/jats:italic>\n                      variant was found in all these patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>The transcript with pseudoexon activation potentially affects sialic acid biosynthesis via nonsense\u2010mediated mRNA decay, or resulting in a truncated hGNE1 protein, which interferes with normal enzyme function. LRS is expected to be more frequently incorporated in genetic analysis given its efficacy in detecting hard\u2010to\u2010find pathogenic variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.28092","type":"journal-article","created":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T05:25:25Z","timestamp":1711949125000},"page":"708-718","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Pseudoexon activation by deep intronic variation in\n                    <scp>GNE<\/scp>\n                    myopathy with thrombocytopenia"],"prefix":"10.1002","volume":"69","author":[{"given":"Kexin","family":"Jiao","sequence":"first","affiliation":[{"name":"Department of Neurology, Huashan Hospital Fudan University  Shanghai China"},{"name":"Huashan Rare Disease Center, Shanghai Medical College, Huashan Hospital Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  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Hospital Fudan University  Shanghai China"},{"name":"Huashan Rare Disease Center, Shanghai Medical College, Huashan Hospital Fudan University  Shanghai China"},{"name":"National Center for Neurological Disorders (NCND)  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7772-6449","authenticated-orcid":false,"given":"Yu","family":"Ding","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, School of Life Sciences Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinghua","family":"Luan","sequence":"additional","affiliation":[{"name":"Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LingChun","family":"Liu","sequence":"additional","affiliation":[{"name":"The First People's Hospital of Yunnan Province  Kunming 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