{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T22:12:35Z","timestamp":1761948755647,"version":"3.37.3"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2021,11,5]],"date-time":"2021-11-05T00:00:00Z","timestamp":1636070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,11,5]],"date-time":"2021-11-05T00:00:00Z","timestamp":1636070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Key Research and Development Program of Zhejiang Province","award":["2017C03009"],"award-info":[{"award-number":["2017C03009"]}]},{"name":"National Key Research and Development Program of China","award":["2017YFC1001703"],"award-info":[{"award-number":["2017YFC1001703"]}]},{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"publisher","award":["2014QNA6002"],"award-info":[{"award-number":["2014QNA6002"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["World J Pediatr"],"published-print":{"date-parts":[[2021,12]]},"DOI":"10.1007\/s12519-021-00473-6","type":"journal-article","created":{"date-parts":[[2021,11,5]],"date-time":"2021-11-05T04:19:11Z","timestamp":1636085951000},"page":"653-658","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China"],"prefix":"10.1007","volume":"17","author":[{"given":"Jin-Yu","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ding-Wen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ru-Lai","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng-Yi","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-Jun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue-Kun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6004-0176","authenticated-orcid":false,"given":"Xiao-Ling","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Tong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Shu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,11,5]]},"reference":[{"key":"473_CR1","doi-asserted-by":"publisher","first-page":"1673","DOI":"10.1056\/NEJM199112123252401","volume":"325","author":"F Rousseau","year":"1991","unstructured":"Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. 1991;325:1673\u201381.","journal-title":"N Engl J Med"},{"key":"473_CR2","doi-asserted-by":"publisher","first-page":"S194","DOI":"10.1542\/peds.2016-1159F","volume":"139","author":"WE Kaufmann","year":"2017","unstructured":"Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, et al. Autism spectrum disorder in fragile X syndrome: cooccurring conditions and current treatment. Pediatrics. 2017;139:S194\u2013206.","journal-title":"Pediatrics"},{"key":"473_CR3","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1097\/GIM.0b013e31818c2606","volume":"10","author":"KE Kronquist","year":"2008","unstructured":"Kronquist KE, Sherman SL, Spector EB. Clinical significance of tri-nucleotide repeats in fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med. 2008;10:845\u20137.","journal-title":"Genet Med"},{"key":"473_CR4","doi-asserted-by":"publisher","first-page":"17065","DOI":"10.1038\/nrdp.2017.65","volume":"3","author":"RJ Hagerman","year":"2017","unstructured":"Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, et al. Fragile X syndrome. Nat Rev Dis Primers. 2017;3:17065.","journal-title":"Nat Rev Dis Primers"},{"key":"473_CR5","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1542\/peds.2013-4301","volume":"134","author":"SA Kidd","year":"2014","unstructured":"Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, et al. Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014;134:995\u20131005.","journal-title":"Pediatrics"},{"key":"473_CR6","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1038\/nrneurol.2016.82","volume":"12","author":"RJ Hagerman","year":"2016","unstructured":"Hagerman RJ, Hagerman P. Fragile X-associated tremor\/ataxia syndrome\u2014features, mechanisms and management. Nat Rev Neurol. 2016;12:403\u201312.","journal-title":"Nat Rev Neurol"},{"key":"473_CR7","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1111\/j.1399-0004.2009.01237.x","volume":"76","author":"S Levesque","year":"2009","unstructured":"Levesque S, Dombrowski C, Morel ML, Rehel R, Cote JS, Bussieres J, et al. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. Clin Genet. 2009;76:511\u201323.","journal-title":"Clin Genet"},{"key":"473_CR8","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/1866-1955-6-24","volume":"6","author":"CM Yrigollen","year":"2014","unstructured":"Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, et al. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord. 2014;6:24.","journal-title":"J Neurodev Disord"},{"key":"473_CR9","doi-asserted-by":"publisher","first-page":"101","DOI":"10.5582\/irdr.2014.01029","volume":"3","author":"Z Muzar","year":"2014","unstructured":"Muzar Z, Lozano R. Current research, diagnosis, and treatment of fragile X-associated tremor\/ataxia syndrome. Intractable Rare Dis Res. 2014;3:101\u20139.","journal-title":"Intractable Rare Dis Res"},{"key":"473_CR10","doi-asserted-by":"publisher","first-page":"e2020011528","DOI":"10.1542\/peds.2020-011528","volume":"147","author":"AC Wheeler","year":"2021","unstructured":"Wheeler AC, Gwaltney A, Raspa M, Okoniewski KC, Berry-Kravis E, Botteron KN, et al. Emergence of developmental delay in infants and toddlers with an\u00a0FMR1\u00a0mutation. Pediatrics. 2021;147:e2020011528.","journal-title":"Pediatrics"},{"key":"473_CR11","doi-asserted-by":"publisher","first-page":"S207","DOI":"10.1542\/peds.2016-1159G","volume":"139","author":"C Riley","year":"2017","unstructured":"Riley C, Wheeler A. Assessing the fragile X syndrome newborn screening landscape. Pediatrics. 2017;139:S207\u201315.","journal-title":"Pediatrics"},{"key":"473_CR12","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1542\/peds.2008-2992","volume":"124","author":"DB Bailey Jr","year":"2009","unstructured":"Bailey DB Jr, Raspa M, Bishop E, Holiday D. No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. Pediatrics. 2009;124:527\u201333.","journal-title":"Pediatrics"},{"key":"473_CR13","doi-asserted-by":"publisher","first-page":"217.e1","DOI":"10.1016\/j.jpeds.2017.10.008","volume":"193","author":"LV Gabis","year":"2018","unstructured":"Gabis LV, Hochberg O, Attia OL, Banet-Levi Y, Topf D, Shefer S. Prolonged time lag to final diagnosis of fragile X syndrome. J Pediatr. 2018;193:217.e1-221.e1.","journal-title":"J Pediatr"},{"key":"473_CR14","doi-asserted-by":"publisher","first-page":"9","DOI":"10.3390\/ijns4010009","volume":"4","author":"T Wotton","year":"2018","unstructured":"Wotton T, Wiley V, Bennetts B, Christie L, Wilcken B, Jenkins G, et al. Are we ready for fragile X newborn screening testing?\u2014lessons learnt from a feasibility study. Int J Neonatal Screen. 2018;4:9.","journal-title":"Int J Neonatal Screen"},{"key":"473_CR15","doi-asserted-by":"publisher","first-page":"4","DOI":"10.3390\/brainsci9010004","volume":"9","author":"KC Okoniewski","year":"2019","unstructured":"Okoniewski KC, Wheeler AC, Lee S, Boyea B, Raspa M, Taylor JL, et al. Early identification of fragile X syndrome through expanded newborn screening. Brain Sci. 2019;9:4.","journal-title":"Brain Sci"},{"key":"473_CR16","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/j.ajhg.2009.09.007","volume":"85","author":"B Coffee","year":"2009","unstructured":"Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009;85:503\u201314.","journal-title":"Am J Hum Genet"},{"key":"473_CR17","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1093\/hmg\/11.4.371","volume":"11","author":"C Dombrowski","year":"2002","unstructured":"Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet. 2002;11:371\u20138.","journal-title":"Hum Mol Genet"},{"key":"473_CR18","doi-asserted-by":"publisher","first-page":"1648","DOI":"10.1002\/ajmg.a.36511","volume":"164A","author":"J Hunter","year":"2014","unstructured":"Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. 2014;164A:1648\u201358.","journal-title":"Am J Med Genet A"},{"key":"473_CR19","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1186\/s12887-015-0394-8","volume":"15","author":"X Chen","year":"2015","unstructured":"Chen X, Wang J, Xie H, Zhou W, Wu Y, Wang J, et al. Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder. BMC Pediatr. 2015;15:77.","journal-title":"BMC Pediatr"},{"key":"473_CR20","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1002\/mgg3.128","volume":"3","author":"W Huang","year":"2015","unstructured":"Huang W, Xia Q, Luo S, He H, Zhu T, Du Q, et al. Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population. Mol Genet Genom Med. 2015;3:172\u201381.","journal-title":"Mol Genet Genom Med"},{"key":"473_CR21","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1002\/ajmg.a.30528","volume":"133A","author":"CC Tzeng","year":"2005","unstructured":"Tzeng CC, Tsai LP, Hwu WL, Lin SJ, Chao MC, Jong YJ, et al. Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. Am J Med Genet A. 2005;133A:37\u201343.","journal-title":"Am J Med Genet A"},{"key":"473_CR22","first-page":"824","volume":"48","author":"GY Yao","year":"2010","unstructured":"Yao GY, Bian XY, Squires J, Wei M, Song W. Cutoff scores of the ages and stages questionnaire-Chinese for screening infants and toddlers. Zhonghua Er Ke Za Zhi. 2010;48:824\u20138.","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"473_CR23","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1373\/clinchem.2009.136101","volume":"56","author":"S Filipovic-Sadic","year":"2010","unstructured":"Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, et al. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010;56:399\u2013408.","journal-title":"Clin Chem"},{"key":"473_CR24","doi-asserted-by":"publisher","first-page":"589","DOI":"10.2353\/jmoldx.2010.090227","volume":"12","author":"L Chen","year":"2010","unstructured":"Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J, Sekinger E, et al. An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn. 2010;12:589\u2013600.","journal-title":"J Mol Diagn"},{"key":"473_CR25","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.braindev.2008.12.015","volume":"32","author":"S Otsuka","year":"2010","unstructured":"Otsuka S, Sakamoto Y, Siomi H, Itakura M, Yamamoto K, Matumoto H, et al. Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev. 2010;32:110\u20134.","journal-title":"Brain Dev"},{"key":"473_CR26","doi-asserted-by":"publisher","first-page":"S216","DOI":"10.1542\/peds.2016-1159H","volume":"139","author":"DB Bailey Jr","year":"2017","unstructured":"Bailey DB Jr, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, et al. Fragile X newborn screening: lessons learned from a multisite screening study. Pediatrics. 2017;139:S216\u201325.","journal-title":"Pediatrics"}],"container-title":["World Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12519-021-00473-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12519-021-00473-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12519-021-00473-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T08:14:28Z","timestamp":1638432868000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12519-021-00473-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,5]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["473"],"URL":"https:\/\/doi.org\/10.1007\/s12519-021-00473-6","relation":{},"ISSN":["1708-8569","1867-0687"],"issn-type":[{"type":"print","value":"1708-8569"},{"type":"electronic","value":"1867-0687"}],"subject":[],"published":{"date-parts":[[2021,11,5]]},"assertion":[{"value":"4 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 November 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The study has been approved by the Institutional Review Board of the Children\u2019s Hospital of Zhejiang University School of Medicine (2018-IRB-076). Informed consent to participate in the study have been obtained from the parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Author Qiang Shu and Xue-Kun Li are members of the Editorial Board for the World Journal of Pediatrics. The paper was handled by the other Editor and has undergone rigrous peer review process. Author Qiang Shu and Xue-Kun Li were not involved in the journal's review of or decisions related to, this manuscript. In addition, two patents on the primers and testing kits used in this study were pending. No other financial or non-financial benefits have been received or will be received from any party related directly or indirectly to the subject of this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}