{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T22:11:45Z","timestamp":1773180705761,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:00:00Z","timestamp":1698710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Sotos syndrome (SS) is an overgrowth disease characterized by distinctive facial features, advanced bone age, macrocephaly, and developmental delay is associated with alterations in the\n                      <jats:italic>NSD1<\/jats:italic>\n                      gene. Here, we report a case of a 4\u2010year\u2010old female child with SS caused by\n                      <jats:italic>NSD1<\/jats:italic>\n                      gene nonsense mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome sequencing (WES) was applied for probands and her parents. Sanger sequencing was used to confirm the mutation. We performed the literature review using PubMed and found 12 articles and 14 patients who presented with SS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The patient showed typical facial features of SS, hand deformities, and seizure. WES revealed de novo heterozygous variant:\n                      <jats:italic>NSD1<\/jats:italic>\n                      (NM_022455.5), c.6095G\u00a0&gt;\u00a0A, p.TRP2032*. We also reviewed the phenotype spectrum of 14 patients with SS, who exhibited a variety of clinical phenotypes, including developmental delay, seizures, scoliosis, hearing loss, cardiac and urinary system abnormalities, and so on.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      The lack of correlation between mutation sites or types and phenotypes was summarized by literature reviewing. The NSD1 protein contains 14 functional domains and this nonsense mutation was located in SET domain. Early appearance of the termination codon leads to protein truncation. Haploinsufficiency of the\n                      <jats:italic>NSD1<\/jats:italic>\n                      gene causes the overgrowth disorders.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/brb3.3290","type":"journal-article","created":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:54:51Z","timestamp":1698800091000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel nonsense variant in\n                    <i>NSD1<\/i>\n                    gene in a female child with Sotos syndrome: A case report and literature review"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9569-2868","authenticated-orcid":false,"given":"Xinting","family":"Liu","sequence":"first","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"},{"name":"Medical School of Chinese PLA  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Chen","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2409-3497","authenticated-orcid":false,"given":"Lin","family":"Wan","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"},{"name":"Medical School of Chinese PLA  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Zhu","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"},{"name":"Medical School of Chinese PLA  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lizhu","family":"Hu","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"},{"name":"Medical School of Chinese PLA  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Liang","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"},{"name":"Medical School of Chinese PLA  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Gao","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang","family":"Yang","sequence":"additional","affiliation":[{"name":"Senior Department of Pediatrics the Seventh Medical Center of PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics, the First Medical Center Chinese PLA General Hospital  Beijing China"},{"name":"The Second School of Clinical Medicine Southern Medical University  Guangzhou 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