{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:16:36Z","timestamp":1772165796687,"version":"3.50.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T00:00:00Z","timestamp":1714953600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T00:00:00Z","timestamp":1714953600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"JSPS KAKENHI","award":["JP23K07229"],"award-info":[{"award-number":["JP23K07229"]}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109674"],"award-info":[{"award-number":["JP23ek0109674"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>ASXL3<\/jats:italic>\n                      -related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in\n                      <jats:italic>ASXL3<\/jats:italic>\n                      . The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding difficulty is a main symptom observed in infancy. However, no adolescent case has been reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 14-year-old girl with\n                      <jats:italic>ASXL3<\/jats:italic>\n                      -related syndrome was referred to our hospital with subacute onset of emotional lability. Limbic encephalitis was ruled out by examination; however, the patient gradually showed a lack of interest in eating, with decreased diet volume. Consequently, she experienced significant weight loss. She experienced no symptoms of bulimia, or food allergy; therefore, avoidant\/restrictive food intake disorder (ARFID) was clinically suspected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We reported the first case of\n                      <jats:italic>ASXL3<\/jats:italic>\n                      -related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12887-024-04774-3","type":"journal-article","created":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T03:02:49Z","timestamp":1714964569000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty"],"prefix":"10.1186","volume":"24","author":[{"given":"Yuto","family":"Arai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tohru","family":"Okanishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuya","family":"Okazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Awano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rie","family":"Seyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuri","family":"Uchiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Tamasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiro","family":"Maegaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,5,6]]},"reference":[{"key":"4774_CR1","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/gm415","volume":"5","author":"MN Bainbridge","year":"2013","unstructured":"Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, et al. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013;5:11.","journal-title":"Genome Med"},{"key":"4774_CR2","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1136\/jmedgenet-2016-104360","volume":"54","author":"M Balasubramanian","year":"2017","unstructured":"Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, et al. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet. 2017;54:537\u201343.","journal-title":"J Med Genet"},{"key":"4774_CR3","unstructured":"Balasubramanian M, Schirwani S. ASXL3-related disorder. In: Seattle (WA): University of Washington. Seattle. pp. 1993\u20132022; 2020 Nov 5. GeneReviews\u00ae [Internet]. Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, editors."},{"key":"4774_CR4","doi-asserted-by":"publisher","first-page":"3446","DOI":"10.1002\/ajmg.a.62465","volume":"185","author":"S Schirwani","year":"2021","unstructured":"Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, et al. Expanding the phenotype of ASXL3-related syndrome: a comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021;185:3446\u201358.","journal-title":"Am J Med Genet A"},{"key":"4774_CR5","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1265\/jjh.65.516","volume":"65","author":"N Tatsuta","year":"2010","unstructured":"Tatsuta N, Nakai K, Suzuki K, Kurokawa N, Shimada M, Yaginuma K, et al. [Construction of maladaptive behavior scale in Japanese]. Nihon Eiseigaku Zasshi. 2010;65:516\u201323.","journal-title":"Nihon Eiseigaku Zasshi"},{"key":"4774_CR6","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"4774_CR7","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1007\/s40124-018-0162-y","volume":"6","author":"KS Brigham","year":"2018","unstructured":"Brigham KS, Manzo LD, Eddy KT, Thomas JJ. Evaluation and treatment of avoidant\/restrictive food intake disorder (ARFID) in adolescents. Curr Pediatr Rep. 2018;6:107\u201313.","journal-title":"Curr Pediatr Rep"},{"key":"4774_CR8","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1186\/s40337-022-00578-x","volume":"10","author":"HL Kennedy","year":"2022","unstructured":"Kennedy HL, Dinkler L, Kennedy MA, Bulik CM, Jordan J. How genetic analysis may contribute to the understanding of avoidant\/restrictive food intake disorder (ARFID). J Eat Disord. 2022;10:53.","journal-title":"J Eat Disord"},{"key":"4774_CR9","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1111\/j.1365-2788.2005.00658.x","volume":"49","author":"E Emerson","year":"2005","unstructured":"Emerson E, Robertson J, Wood J. Emotional and behavioural needs of children and adolescents with intellectual disabilities in an urban conurbation. 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J Adolesc Health. 2014;55(1):49\u201352.","journal-title":"J Adolesc Health"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-04774-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-024-04774-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-04774-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T03:03:35Z","timestamp":1714964615000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-024-04774-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,6]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4774"],"URL":"https:\/\/doi.org\/10.1186\/s12887-024-04774-3","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3143918\/v1","asserted-by":"object"}]},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,6]]},"assertion":[{"value":"6 July 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 April 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 May 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The protocol and application for this patient for genetic testing (whole-exome sequencing analysis of the patient\u2019s preserved blood sample) was approved by the Central Ethics Committee of Tohoku University School of Medicine Hospital (2018\u20132-216). Written informed consent was obtained from the patient\u2019s parents to perform genetic tests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare that they have no competing interests. The authors obtained a written informed consent from parents for publication.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"308"}}