{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:32:01Z","timestamp":1790879521104,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T00:00:00Z","timestamp":1682294400000},"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":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in\n                    <jats:italic>RNASEH2C<\/jats:italic>\n                    cause Aicardi\u2010Gouti\u00e8res syndrome 3 (AGS3, MIM #610329), a rare early\u2010onset encephalopathy characterized by intermittent unexplained fever, chilblains, irritability, progressive microcephaly, dystonia, spasticity, severe psychomotor retardation and abnormal brain imaging. Currently, approximately 50 individuals with AGS3 and 19 variants in\n                    <jats:italic>RNASEH2C<\/jats:italic>\n                    have been revealed. Here, we reported the novel clinical manifestations and genotypic information of three unrelated Chinese patients with AGS3 caused by pathogenic variants in\n                    <jats:italic>RNASEH2C<\/jats:italic>\n                    . In addition to three novel missense variants (c.101G&gt;A, p.Cys34Tyr; c.401T&gt;A, p.Leu134Gln and c.434G&gt;T, p.Arg145Leu), one missense variant (c.194G&gt;A, p.Gly65Asp) reoccurred in all patients but was completely absent in South Asian and other ethnicities. Our study expanded the variant spectrum of\n                    <jats:italic>RNASEH2C<\/jats:italic>\n                    and identified\n                    <jats:italic>RNASEH2C<\/jats:italic>\n                    c.194G&gt;A as a Chinese\u2010specific founder mutation. The novel phenotypes, including mouth ulcers, hip dysplasia, retarded dentition and hypogonadism, observed in our patients greatly enriched the clinical characteristics of AGS3.\n                  <\/jats:p>","DOI":"10.1111\/cge.14343","type":"journal-article","created":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T03:50:03Z","timestamp":1682308203000},"page":"259-265","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<i>RNASEH2C<\/i>\n                    c.\n                    <scp>194G<\/scp>\n                    &gt;A is a Chinese\u2010specific founder mutation in three unrelated patients with\n                    <scp>Aicardi\u2010Gouti\u00e8res<\/scp>\n                    syndrome 3"],"prefix":"10.1111","volume":"104","author":[{"given":"Qingming","family":"Wang","sequence":"first","affiliation":[{"name":"Dongguan Maternal and Child Health Care Hospital  Dongguan China"},{"name":"Department of Medical Genetics Dongguan Maternal and Child Health Care Hospital  Dongguan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Neurology Affiliated Children Hospital of Capital Institute of Pediatrics  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinlong","family":"Zhou","sequence":"additional","affiliation":[{"name":"Dongguan Maternal and Child Health Care Hospital  Dongguan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ShuangXi","family":"Cheng","sequence":"additional","affiliation":[{"name":"Dongguan Maternal and Child Health Care Hospital  Dongguan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Affiliated Children Hospital of Capital Institute of Pediatrics  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Genetics Capital Institute of Pediatrics  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiming","family":"Yuan","sequence":"additional","affiliation":[{"name":"Dongguan Maternal and Child Health Care Hospital  Dongguan China"},{"name":"Department of Medical Genetics Dongguan Maternal and Child Health Care Hospital  Dongguan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/521373"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36887"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1845"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1842"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.373"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2414"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2933"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-00737-3"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keab051"},{"issue":"5","key":"e_1_2_11_11_1","first-page":"504","article-title":"Clinical and neuroradiologic variability of Aicardi\u2010Gouti\u00e9res syndrome: two siblings with RNASEH2C mutation and a boy with TREX1 mutation","volume":"57","author":"Uyur Yal\u00e7\u0131n E","year":"2015","journal-title":"Turk J Pediatr"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.27367"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjno-2019-000018"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38522"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35712"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-022-00545-1"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.633385"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33359"}],"container-title":["Clinical 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