{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T12:42:46Z","timestamp":1759408966337,"version":"build-2065373602"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T00:00:00Z","timestamp":1759363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T00:00:00Z","timestamp":1759363200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"DOI":"10.1186\/s12887-025-05948-3","type":"journal-article","created":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T12:07:54Z","timestamp":1759406874000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A case of ADH5\/ALDH2 deficiency combined with 3q29 microduplication syndrome"],"prefix":"10.1186","volume":"25","author":[{"given":"Shu","family":"Chenzhuo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fu","family":"Lingling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Ang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Hui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wang","family":"Ruixin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Bixi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Hongmin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma","family":"Jie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wang","family":"Tianyou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,2]]},"reference":[{"key":"5948_CR1","first-page":"492","volume":"2011","author":"J Soulier","year":"2011","unstructured":"Soulier J. Fanconi anemia. Hematol-Am Soc Hemat. 2011;2011:492\u20137.","journal-title":"Hematol-Am Soc Hemat"},{"issue":"2","key":"5948_CR2","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.hoc.2009.01.008","volume":"23","author":"AM Green","year":"2009","unstructured":"Green AM, Kupfer GM. Fanconi anemia. Hematol Oncol Clin North Am. 2009;23(2):193\u2013214.","journal-title":"Hematol Oncol Clin North Am"},{"issue":"6","key":"5948_CR3","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1182\/blood.2020006481","volume":"140","author":"I Dokal","year":"2022","unstructured":"Dokal I, Tummala H, Vulliamy T. Inherited bone marrow failure in the pediatric patient. Blood. 2022;140(6):556\u201370.","journal-title":"Blood"},{"key":"5948_CR4","doi-asserted-by":"publisher","first-page":"8","DOI":"10.3390\/biom13081249","volume":"13","author":"N Kawashima","year":"2023","unstructured":"Kawashima N, Bezzerri V, Corey SJ. The molecular and genetic mechanisms of inherited bone marrow failure syndromes: the role of inflammatory cytokines in their pathogenesis. Biomolecules. 2023;13:8.","journal-title":"Biomolecules"},{"issue":"14","key":"5948_CR5","first-page":"1615","volume":"136","author":"FD Tsai","year":"2020","unstructured":"Tsai FD, Lindsley RC. Clonal hematopoiesis in the inherited bone marrow failure syndromes. Blood. 2020;136(14):1615\u201322.","journal-title":"Blood"},{"issue":"2","key":"5948_CR6","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s12098-019-03066-4","volume":"87","author":"H Fassel","year":"2020","unstructured":"Fassel H, Sheth S. Bone marrow failure in children: approach to diagnosis and treatment. Indian J Pediatr. 2020;87(2):141\u20139.","journal-title":"Indian J Pediatr"},{"issue":"1","key":"5948_CR7","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1097\/MOP.0000000000001196","volume":"35","author":"J Deng","year":"2023","unstructured":"Deng J, McReynolds LJ. Inherited bone marrow failure syndromes: a review of current practices and potential future research directions. Curr Opin Pediatr. 2023;35(1):75\u201383.","journal-title":"Curr Opin Pediatr"},{"key":"5948_CR8","doi-asserted-by":"publisher","unstructured":"Oka Y, Hamada M, Nakazawa Y, et al. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci Adv. 2020;6(51):eabd7197. https:\/\/doi.org\/10.1126\/sciadv.abd7197.","DOI":"10.1126\/sciadv.abd7197"},{"issue":"15","key":"5948_CR9","doi-asserted-by":"publisher","first-page":"2021","DOI":"10.1182\/blood.2020009111","volume":"137","author":"A Mu","year":"2021","unstructured":"Mu A, Hira A, Niwa A, et al. Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5\/ALDH2 deficiency. Blood. 2021;137(15):2021\u201332.","journal-title":"Blood"},{"issue":"8","key":"5948_CR10","doi-asserted-by":"publisher","first-page":"e07804","DOI":"10.1016\/j.heliyon.2021.e07804","volume":"7","author":"S Kinoshita","year":"2021","unstructured":"Kinoshita S, Ando M, Ando J, et al. Trigenic ADH5\/ALDH2\/ADGRV1 mutations in myelodysplasia with Usher syndrome. Heliyon. 2021;7(8):e07804.","journal-title":"Heliyon"},{"key":"5948_CR11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2024.104939","volume":"69","author":"M Matsumoto","year":"2024","unstructured":"Matsumoto M, Oyake M, Itonaga T, et al. Characteristic phenotypes of ADH5\/ALDH2 deficiency during childhood. Eur J Med Genet. 2024;69: 104939.","journal-title":"Eur J Med Genet"},{"issue":"8","key":"5948_CR12","doi-asserted-by":"publisher","first-page":"2043","DOI":"10.1002\/ajmg.a.36559","volume":"164A","author":"A Fernandez-Jaen","year":"2014","unstructured":"Fernandez-Jaen A, Castellanos MC, Fernandez-Perrone AL, et al. Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome. Am J Med Genet A. 2014;164A(8):2043\u20137.","journal-title":"Am J Med Genet A"},{"issue":"8","key":"5948_CR13","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1016\/j.ejmg.2018.02.011","volume":"61","author":"E Tassano","year":"2018","unstructured":"Tassano E, Uccella S, Giacomini T, et al. 3q29 microduplication syndrome: description of two new cases and delineation of the minimal critical region. Eur J Med Genet. 2018;61(8):428\u201333.","journal-title":"Eur J Med Genet"},{"issue":"4","key":"5948_CR14","doi-asserted-by":"publisher","first-page":"e2130","DOI":"10.1002\/mgg3.2130","volume":"11","author":"A Bauleo","year":"2023","unstructured":"Bauleo A, Pace V, Montesanto A, et al. 3q29 microduplication syndrome: new evidence for the refinement of the critical region. Mol Genet Genom Med. 2023;11(4):e2130.","journal-title":"Mol Genet Genom Med"},{"issue":"12","key":"5948_CR15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104083","volume":"63","author":"AG Coyan","year":"2020","unstructured":"Coyan AG, Dyer LM. 3q29 microduplication syndrome: clinical and molecular description of eleven new cases. Eur J Med Genet. 2020;63(12): 104083.","journal-title":"Eur J Med Genet"},{"issue":"7","key":"5948_CR16","doi-asserted-by":"publisher","first-page":"e167","DOI":"10.1515\/cclm-2017-1090","volume":"56","author":"A Vitale","year":"2018","unstructured":"Vitale A, Labruna G, Mancini A, et al. 3q29 microduplication in a small family with complex metabolic phenotype from Southern Italy. Clin Chem Lab Med. 2018;56(7):e167\u201370.","journal-title":"Clin Chem Lab Med"},{"issue":"1","key":"5948_CR17","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1002\/gcc.22005","volume":"52","author":"J Huh","year":"2013","unstructured":"Huh J, Jung CW, Kim HJ, et al. Different characteristics identified by single nucleotide polymorphism array analysis in leukemia suggest the need for different application strategies depending on disease category. Gene Chromosome Canc. 2013;52(1):44\u201355.","journal-title":"Gene Chromosome Canc"},{"issue":"3","key":"5948_CR18","doi-asserted-by":"publisher","first-page":"1534","DOI":"10.1182\/blood-2007-05-092304","volume":"111","author":"LP Gondek","year":"2008","unstructured":"Gondek LP, Tiu R, O\u2019Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS\/MPD, and MDS-derived AML. Blood. 2008;111(3):1534\u201342.","journal-title":"Blood"},{"issue":"12","key":"5948_CR19","doi-asserted-by":"publisher","first-page":"1811","DOI":"10.1007\/s00439-022-02462-9","volume":"141","author":"JD Peake","year":"2022","unstructured":"Peake JD, Noguchi E. Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair. Hum Genet. 2022;141(12):1811\u201336.","journal-title":"Hum Genet"},{"issue":"6","key":"5948_CR20","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1111\/ijlh.12878","volume":"40","author":"K Ji","year":"2018","unstructured":"Ji K, Kong Y, Liu Y, et al. Evaluation on the genetic instability detecting methods for rapid diagnose of Fanconi anemia used in the undeveloped areas of China. Int J Lab Hematol. 2018;40(6):630\u20136.","journal-title":"Int J Lab Hematol"},{"issue":"1","key":"5948_CR21","first-page":"649","volume":"2022","author":"C Dufour","year":"2022","unstructured":"Dufour C, Pierri F. Modern management of Fanconi anemia. Hematol-Am Soc Hemat. 2022;2022(1):649\u201357.","journal-title":"Hematol-Am Soc Hemat"},{"issue":"1","key":"5948_CR22","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1111\/bjh.14615","volume":"178","author":"C Dufour","year":"2017","unstructured":"Dufour C. How I manage patients with Fanconi anaemia. Brit J Haematol. 2017;178(1):32\u201347.","journal-title":"Brit J Haematol"},{"issue":"13","key":"5948_CR23","doi-asserted-by":"publisher","first-page":"1513","DOI":"10.1182\/blood.2022017739","volume":"141","author":"CR Reilly","year":"2023","unstructured":"Reilly CR, Shimamura A. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances. Blood. 2023;141(13):1513\u201323.","journal-title":"Blood"},{"issue":"5","key":"5948_CR24","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1016\/j.stem.2018.10.004","volume":"23","author":"JI Hsu","year":"2018","unstructured":"Hsu JI, Dayaram T, Tovy A, et al. PPM1D mutations drive clonal hematopoiesis in response to cytotoxic chemotherapy. Cell Stem Cell. 2018;23(5):700\u201313.","journal-title":"Cell Stem Cell"},{"issue":"4","key":"5948_CR25","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1111\/bjh.17120","volume":"192","author":"S Husby","year":"2021","unstructured":"Husby S, Hjermind JE, Gronbaek K. Protein phosphatase, Mg(2+)\/Mn(2+)-dependent 1D (PPM1D) mutations in haematological cancer. Brit J Haematol. 2021;192(4):697\u2013705.","journal-title":"Brit J Haematol"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-025-05948-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-025-05948-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-025-05948-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T12:07:55Z","timestamp":1759406875000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-025-05948-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,2]]},"references-count":25,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["5948"],"URL":"https:\/\/doi.org\/10.1186\/s12887-025-05948-3","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,2]]},"assertion":[{"value":"1 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 October 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Ethics Committee of Beijing Children\u2019s Hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The written informed consent was obtained from parents for publication of identifying information\/images in an online open-access publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"717"}}