{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:50:43Z","timestamp":1786978243488,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The enzyme NOP2\/Sun RNA methyltransferase 2 (NSUN2) catalyzes the methylation of cytosine to 5\u2010methylcytosine (m5C) at position 34 of tRNA(Leu; CAA) precursors containing introns that play a vital role in spindle assembly during mitosis and chromosome segregation. Biallelic variants in the\n                      <jats:italic>NSUN2<\/jats:italic>\n                      gene cause a rare intellectual disability that has been identified only in a few Middle Eastern patients. Affected individuals usually have other deformities, including developmental delay, short stature, microcephaly, and facial dysmorphism. The aim of this study was to identify the genetic cause of three female patients from a Chinese pedigree, who presented with similar phenotype consisting of the above clinical features.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome sequencing (WES) was used to screen for causal variants in the genome, and the candidate variants were subsequently verified using Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES revealed a previously unreported homozygous nonsense variant (NM_017755.5: c.1004T&gt;A, p.Leu335*) in exon 9 of\n                      <jats:italic>NSUN2<\/jats:italic>\n                      , which was consistent with the clinical phenotype of the patients and co\u2010segregated with the disease in their family. A comparison of this phenotype with that of patients in published reports uncovered several novel clinical features related to\n                      <jats:italic>NSUN2<\/jats:italic>\n                      variations, including feeding difficulties, slender hands and fingers, severely restricted finger mobility, hallux valgus, varus foot, and elevated \u03b1\u2010hydroxybutyrate dehydrogenase (HBDH).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These are the first findings of a non\u2010consanguineous Chinese pedigree with a homozygous\n                      <jats:italic>NSUN2<\/jats:italic>\n                      variant. We expanded the phenotypic spectrum associated with\n                      <jats:italic>NSUN2<\/jats:italic>\n                      variations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1518","type":"journal-article","created":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T13:10:41Z","timestamp":1601557841000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the\n                    <i>NSUN2<\/i>\n                    gene in a chinese pedigree"],"prefix":"10.1002","volume":"8","author":[{"given":"Songyang","family":"Sun","sequence":"first","affiliation":[{"name":"Guizhou University Guiyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Guizhou Provincial People\u2019s Hospital Guizhou University Guiyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuchuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Guizhou Provincial People\u2019s Hospital Guizhou University Guiyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children\u2019s Medical Center Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6504-7633","authenticated-orcid":false,"given":"Niu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children\u2019s Medical Center Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xike","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Guizhou Provincial People\u2019s Hospital Guizhou University Guiyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.021"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl765"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.759"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M113.035600"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12280"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200810180"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31661"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.023"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.023"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031\u2010015\u20100592\u20108"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13588"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102011\u2010100686"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2018.1555249"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(12)61023\u2010X"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100140\u20103"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz575"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<277::AID-AJMG46>3.0.CO;2-I"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738060210091301"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1310150"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.513"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010017\u20100333\u20105"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010015\u20101575\u20100"}],"container-title":["Molecular Genetics &amp; 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