{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T05:17:10Z","timestamp":1788239830155,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":242,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Congenital dyserythropoietic anemia is a group of hereditary disorders characterized by erythroid hyperplasia and ineffective erythropoiesis, resulting in anemia of varying severity. Congenital dyserythropoietic anemia Type 1 (CDA\u20101) is classically associated with biallelic mutations in the CDAN1 gene. Here, we report the first case of compound heterozygous CDAN1 mutations p.(D1043V) and p.(S1036F) in clinical practice, presenting in a 24\u2010year\u2010old woman with mild, asymptomatic macrocytic anemia and hyperferritinemia. These variants are currently classified as variants of uncertain significance; however, this report represents the first clinical case of this compound heterozygous CDAN1 variant combination in a patient with a phenotype consistent with CDA\u20101. As the phenotypic boundaries of CDA\u20101 continue to expand, clinicians should consider CDA\u20101 in the differential diagnosis of unexplained macrocytic anemia, even in the absence of severe anemia.<\/jats:p>","DOI":"10.1155\/crh\/8073716","type":"journal-article","created":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:29:40Z","timestamp":1788236980000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Double Heterozygous CDAN1 Variants of Uncertain Significance Associated With a Phenotype Consistent With Congenital Dyserythropoietic Anemia Type 1"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-2655-6418","authenticated-orcid":false,"given":"Kevin G.","family":"Zablonski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4637-4211","authenticated-orcid":false,"given":"Neil A.","family":"Lachant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3993-8672","authenticated-orcid":false,"given":"Archibald","family":"Perkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1498-5886","authenticated-orcid":false,"given":"William J.","family":"Archibald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,31]]},"reference":[{"key":"e_1_2_12_1_2","article-title":"Congenital Dyserythropoietic Anemia Type I","author":"Tamary H.","year":"2009","journal-title":"GeneReviews"},{"key":"e_1_2_12_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019000948"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15817"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2012.55"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.005785"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200411000-00011"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.2513065.x"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2020.102534"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-106880"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-01-0421"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2012.072207"},{"key":"e_1_2_12_12_2","doi-asserted-by":"crossref","unstructured":"StojaspalM. 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Inherited CDA-I Disease: Anemia-Associated Mutations Disrupt CDINI-Codanin I Complex 2023 https:\/\/doi.org\/10.1101\/2023.05.25.542057.","DOI":"10.1101\/2023.05.25.542057"},{"key":"e_1_2_12_13_2","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0000000000000697"},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_12_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_12_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_12_17_2","article-title":"Franklin by Genoox: the Future of Genomic Medicine [Internet]","author":"Genoox","year":"2022","journal-title":"Palo Alto (CA): Genoox"},{"key":"e_1_2_12_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.014563"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.27350"},{"key":"e_1_2_12_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.13112"},{"key":"e_1_2_12_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/febs.70421"},{"key":"e_1_2_12_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.13428"}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crh\/8073716","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crh\/8073716","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crh\/8073716","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:29:42Z","timestamp":1788236982000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crh\/8073716"}},"subtitle":[],"editor":[{"given":"Kalyani","family":"Sen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crh\/8073716"],"URL":"https:\/\/doi.org\/10.1155\/crh\/8073716","archive":["Portico"],"relation":{},"ISSN":["2090-6560","2090-6579"],"issn-type":[{"value":"2090-6560","type":"print"},{"value":"2090-6579","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-04-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-31","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8073716"}}