Congenital dyserythropoietic anemias (CDA) are disorders characterized by ineffective erythropoiesis and morphological anomalies in erythrocytes and erythroblasts. The purpose of this study is to identify the gene variants in patients diagnosed with CDA. We analyzed five unrelated patients and two siblings with a targeted panel of genes to CDA: CDAN1, CDIN1, SEC23B, KIF23, KLF1, and GATA1 genes. We found three novel variants in the CDIN1 gene (p.Leu136Val, p.Tyr247Cys, and p.Ile273Thr), four known variants in the SEC23B gene (p.Arg14Trp, p.Arg554Ter, p.Asp239Gly, and p.Ser436Leu), and one novel variant in the KIF23 gene (p.Leu945Trpfs*31). The in silico analysis of novel variants predict that they are pathogenic and, the in vitro study confirms the functional impact of the KIF23 variant on the protein location.Keywords CDA types Ib . II and III. CDIN1 . SEC23B and KIF23 genes

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Presentamos el caso de una paciente de 52 años, sin antecedentes personales o familiares de cáncer, con clínica de epigastralgia y sin mejoría, a pesar de dosis plenas con inhibidores de la bomba de protones. Por la persistencia de los síntomas, se decidió solicitar una nueva gastroscopia en la que se encontraron lesiones duodenales que describen como linfangiectasias; se tomaron biopsias y se enviaron a Anatomía Patológica, con diagnóstico de linfoma intestinal primario.