{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T21:40:31Z","timestamp":1770759631863,"version":"3.50.0"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>N<\/jats:italic>\u2010acetyl\u2010<jats:sc>d<\/jats:sc>\u2010neuraminic acid synthase\u2010congenital disorder of glycosylation (NANS\u2010CDG) is a rare autosomal recessive defect in the <jats:italic>N<\/jats:italic>\u2010acetyl\u2010neuraminic acid biosynthesis pathway. Herein, we report the first Korean NANS\u2010CDG patient. A 10\u2010year\u2010old boy was referred to our clinic because of incidental radiographic findings indicating spondyloepimetaphyseal dysplasia. The patient had microcephaly, cavum septum pellucidum, and ventriculomegaly at birth, and at 10\u2009years, a very short stature. He had a history of idiopathic chronic immune thrombocytopenia, central adrenal insufficiency, and hypothyroidism since infancy. The first unprovoked seizure occurred at the age of 2\u2009years, and he was subsequently admitted to the hospital frequently because of respiratory infections and intractable seizures. Exome sequencing identified unreported biallelic variants of the <jats:italic>NANS<\/jats:italic> gene. Clinical and genetic confirmation of NANS\u2010CDG highlights its expanding phenotypic and genotypic diversity.<\/jats:p>","DOI":"10.1002\/ajmg.a.63721","type":"journal-article","created":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T07:24:30Z","timestamp":1717226670000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>NANS<\/scp>\u2010<scp>CDG<\/scp>: Expanding clinical insights with a novel patient with novel variants"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2365-9134","authenticated-orcid":false,"given":"Sukdong","family":"Yoo","sequence":"first","affiliation":[{"name":"Department of Pediatrics School of Medicine, Pusan National University  Yangsan Korea"},{"name":"Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital  Yangsan Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8609-5826","authenticated-orcid":false,"given":"Chong Kun","family":"Cheon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine, Pusan National University  Yangsan Korea"},{"name":"Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital  Yangsan Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1530\/JME-15-0323"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.668640"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/glia.23945"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/rth2.12691"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-21751-x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/molecules27165322"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M111.009100"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3578"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0647-2"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1134\/S199075082203012X"},{"key":"e_1_2_8_13_1","volume-title":"Genetic disorders in sialic acid metabolism\u2013a biochemical perspective","author":"Willems A.","year":"2019"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10719-013-9472-z"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19092792"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63721","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T00:59:34Z","timestamp":1743901174000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1002\/ajmg.a.63721"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63721","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"2024-01-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63721"}}