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It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. This often leads to liver iron overload and gallstones. CDA II is caused by biallelic mutations in the SEC23B gene. In this study, we report 9 new CDA II cases and identify 16 pathogenic variants, 6 of which are novel. The newly reported variants in SEC23B include three missenses (p.Thr445Arg, p.Tyr579Cys, and p.Arg701His), one frameshift (p.Asp693GlyfsTer2), and two splicing variants (c.1512-2A&gt;G, and the complex intronic variant c.1512-3delinsTT linked to c.1512-16_1512-7delACTCTGGAAT in the same allele). Computational analyses of the missense variants indicated a loss of key residue interactions within the beta sheet and the helical and gelsolin domains, respectively. Analysis of SEC23B protein levels done in patient-derived lymphoblastoid cell lines (LCLs) showed a significant decrease in SEC23B protein expression, in the absence of SEC23A compensation. Reduced SEC23B mRNA expression was only detected in two probands carrying nonsense and frameshift variants; the remaining patients showed either higher gene expression levels or no expression changes at all. The skipping of exons 13 and 14 in the newly reported complex variant c.1512-3delinsTT\/c.1512-16_1512-7delACTCTGGAAT results in a shorter protein isoform, as assessed by RT-PCR followed by Sanger sequencing. In this work, we summarize a comprehensive spectrum of SEC23B variants, describe nine new CDA II cases accounting for six previously unreported variants, and discuss innovative therapeutic approaches for CDA II.<\/jats:p>","DOI":"10.3390\/ijms24129935","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T03:30:03Z","timestamp":1686281403000},"page":"9935","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II"],"prefix":"10.3390","volume":"24","author":[{"given":"Melina Mara","family":"Musri","sequence":"first","affiliation":[{"name":"BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Venturi","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vall\u00e8s, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X\u00e8nia","family":"Ferrer-Cort\u00e8s","sequence":"additional","affiliation":[{"name":"BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain"},{"name":"Department of Basic Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vall\u00e8s, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1080-3774","authenticated-orcid":false,"given":"L\u00eddia","family":"Romero-Cortadellas","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vall\u00e8s, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3048-9607","authenticated-orcid":false,"given":"Gonzalo","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain"},{"name":"Department of Basic Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vall\u00e8s, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1139-5373","authenticated-orcid":false,"given":"Pilar","family":"Leoz","sequence":"additional","affiliation":[{"name":"Red Blood Cell Disorders Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8387-0137","authenticated-orcid":false,"given":"Mar\u00eda Pilar","family":"Ricard Andr\u00e9s","sequence":"additional","affiliation":[{"name":"Hematology and Hemotherapy, Hospital Universitario Fundaci\u00f3n Alcorc\u00f3n, Avda Budapest, 28922 Alcorcon, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Morado","sequence":"additional","affiliation":[{"name":"Department of Hematology, University Hospital La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda del Carmen","family":"Fern\u00e1ndez Valle","sequence":"additional","affiliation":[{"name":"Hospital Universitario Puerta del Mar, 11009 C\u00e1diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Beneitez Pastor","sequence":"additional","affiliation":[{"name":"Red Blood Cell Disorders Unit, Hematology Department, Hospital Universitari Vall d\u2019Hebron, VHIO, VHIR, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Ortu\u00f1o Cabrero","sequence":"additional","affiliation":[{"name":"Red Blood Cell Disorders Unit, Hematology Department, Hospital Universitari Vall d\u2019Hebron, VHIO, VHIR, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maite","family":"Moreno Gamiz","sequence":"additional","affiliation":[{"name":"Hospital Universitario Cruces, 48903 Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonor","family":"Senent Peris","sequence":"additional","affiliation":[{"name":"Laboratory of Cytomorphology, Unity of Hematologic Diagnostic, Hospital Universitari i Polit\u00e8cnic La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda Isabel","family":"Perez-Valencia","sequence":"additional","affiliation":[{"name":"Department of Hematology, Hospital Cl\u00ednic de Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santiago","family":"P\u00e9rez-Montero","sequence":"additional","affiliation":[{"name":"BloodGenetics S.L. 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Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain"},{"name":"Department of Basic Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vall\u00e8s, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1182\/blood.2019000948","article-title":"Congenital dyserythropoietic anemias","volume":"136","author":"Iolascon","year":"2020","journal-title":"Blood"},{"key":"ref_2","first-page":"581","article-title":"Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III","volume":"108","author":"Venturi","year":"2023","journal-title":"Haematologica"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1046\/j.1365-2141.1997.d01-2062.x","article-title":"A severe transfusion-dependent congenital dyserythropoietic anaemia presenting as hydrops fetalis","volume":"96","author":"Zanella","year":"1997","journal-title":"Br. 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