{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T09:02:14Z","timestamp":1769418134437,"version":"3.49.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2026,2]]},"DOI":"10.1038\/s10038-025-01413-2","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T06:51:51Z","timestamp":1760424711000},"page":"113-116","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition"],"prefix":"10.1038","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7064-1964","authenticated-orcid":false,"given":"Isabel Serra","family":"Nunes","sequence":"first","affiliation":[]},{"given":"Maria","family":"Abreu","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7863-0406","authenticated-orcid":false,"given":"Jorge Diogo","family":"Da Silva","sequence":"additional","affiliation":[]},{"given":"Diana","family":"Gonzaga","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6507-222X","authenticated-orcid":false,"given":"Paula","family":"Jorge","sequence":"additional","affiliation":[]},{"given":"Ros\u00e1rio","family":"Santos","sequence":"additional","affiliation":[]},{"given":"Ana Rita","family":"Soares","sequence":"additional","affiliation":[]},{"given":"Isabel","family":"Marques","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2025,10,14]]},"reference":[{"key":"1413_CR1","unstructured":"AFF2 Gene - OMIM Entry #300806. OMIM, 2024, https:\/\/www.omim.org\/entry\/300806. Accessed 10 Dec. 2024."},{"key":"1413_CR2","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1042\/ETLS20230021","volume":"7","author":"DJ Annear","year":"2023","unstructured":"Annear DJ, Kooy RF. Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions. Emerg Top Life Sci. 2023;7:265\u201375.","journal-title":"Emerg Top Life Sci"},{"key":"1413_CR3","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-93473-5","volume":"11","author":"C Silva","year":"2021","unstructured":"Silva C, Maia N, Santos F, Rodrigues B, Marques I, Santos R, et al. Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions. Sci Rep. 2021;11:14676.","journal-title":"Sci Rep"},{"key":"1413_CR4","doi-asserted-by":"publisher","first-page":"116","DOI":"10.12688\/wellcomeopenres.15342.2","volume":"4","author":"R Clark","year":"2020","unstructured":"Clark R, Gregory S, Ring S, Jacobs P, Ennis S, Murray A, et al. The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC). Wellcome Open Res. 2020;4:116.","journal-title":"Wellcome Open Res"},{"key":"1413_CR5","doi-asserted-by":"publisher","first-page":"3110","DOI":"10.1002\/ajmg.a.34345","volume":"155","author":"T Sahoo","year":"2011","unstructured":"Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, et al. Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. Am J Med Genet Part A. 2011;155:3110\u201356.","journal-title":"Am J Med Genet Part A"},{"key":"1413_CR6","doi-asserted-by":"publisher","first-page":"3206","DOI":"10.1002\/ajmg.a.36768","volume":"164A","author":"NB Da Rocha","year":"2014","unstructured":"Da Rocha NB, dos Santos PA, Safatle HP, de Melo RM, Pereira RW, de Oliveira SF, et al. Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia. Am J Med Genet A. 2014;164A:3206\u20138.","journal-title":"Am J Med Genet A"},{"key":"1413_CR7","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.795840","volume":"15","author":"D Zou","year":"2022","unstructured":"Zou D, Qin B, Wang J, Shi Y, Zhou P, Yi Y, et al. AFF2 is associated with x-linked partial (focal) epilepsy with antecedent febrile seizures. Front Mol Neurosci. 2022;15:795840.","journal-title":"Front Mol Neurosci"},{"key":"1413_CR8","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1016\/j.jmoldx.2021.04.015","volume":"23","author":"T Liu","year":"2021","unstructured":"Liu T, Wang FS, Cheah FSH, Gu Y, Shaw M, Law HY, et al. Simultaneous screening of the FRAXA and FRAXE loci for rapid detection of FMR1 CGG and\/or AFF2 CCG repeat expansions by triplet-primed PCR. J Mol Diagn. 2021;23:941\u201351.","journal-title":"J Mol Diagn"},{"key":"1413_CR9","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-80","volume":"14","author":"P Jorge","year":"2013","unstructured":"Jorge P, Oliveira B, Marques I, Santos R. Development and validation of a multiplex-PCR assay for X-linked intellectual disability. BMC Med Genet. 2013;14:80.","journal-title":"BMC Med Genet"},{"key":"1413_CR10","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1089\/gtmb.2010.0167","volume":"15","author":"L Katikala","year":"2011","unstructured":"Katikala L, Guruju MR, Madireddi S, Vallamkonda O, Vallamkonda N, Persha A, et al. Distribution of CGG\/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology. Genet Test Mol Biomark. 2011;15:281\u20134.","journal-title":"Genet Test Mol Biomark"},{"key":"1413_CR11","doi-asserted-by":"publisher","first-page":"888","DOI":"10.1007\/s10803-014-2185-8","volume":"45","author":"F Correia","year":"2015","unstructured":"Correia F, Caf\u00e9 C, Almeida J, Mouga S, Oliveira G. Autism spectrum disorder: FRAXE mutation, a rare etiology. J Autism Dev Disord. 2015;45:888\u201392.","journal-title":"J Autism Dev Disord"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-025-01413-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-025-01413-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-025-01413-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T23:02:31Z","timestamp":1769382151000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-025-01413-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,14]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["1413"],"URL":"https:\/\/doi.org\/10.1038\/s10038-025-01413-2","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,14]]},"assertion":[{"value":"23 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 September 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 October 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 October 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}