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Distinctive morphology of bone marrow erythroblasts and identification of causative genes allow classification into 4 types caused by variants in <jats:italic><jats:styled-content style=\"fixed-case\">CDAN<\/jats:styled-content>1<\/jats:italic>,<jats:italic> c15orf41<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">SEC<\/jats:styled-content>23B<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>23<\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">KLF<\/jats:styled-content>1<\/jats:italic> genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Identify pathogenic variants in <jats:styled-content style=\"fixed-case\">CDA<\/jats:styled-content> patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Massive parallel sequencing with a targeted gene panel, Sanger sequencing, Comparative Genome Hybridization (<jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content>), and in silico predictive analysis of pathogenicity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pathogenic variants were found in 21 of 53 patients studied from 44 unrelated families. Six variants were found in <jats:styled-content style=\"fixed-case\">CDAN<\/jats:styled-content>1: two reported, p.Arg714Trp and p.Arg725Trp and, four novel, p.Arg623Trp, p.Arg946Trp, p.Phe1125Ser and p.Ser1227Gly. Twelve variants were found in <jats:styled-content style=\"fixed-case\">SEC<\/jats:styled-content>23B: seven reported, p.Arg14Trp, p.Glu109Lys, p.Arg217Ter, c.835\u20102A&gt;G, p.Arg535Ter, p.Arg550Ter and p.Arg718Ter and, five novel, p.Val164Leu, p.Arg190Gln, p.Gln521Ter, p.Arg546Trp, and p.Arg611Gln. The variant p.Glu325Lys in <jats:styled-content style=\"fixed-case\">KLF<\/jats:styled-content>1 was found in one patient and p.Tyr365Cys in <jats:styled-content style=\"fixed-case\">ALAS<\/jats:styled-content>2 in an other. Moreover, we identified genomic rearrangements by <jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content> in some <jats:styled-content style=\"fixed-case\">SEC<\/jats:styled-content>23B\u2010monoallelic patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>New technologies for genetic studies will help to find variants in other genes, in addition to those known, that contribute to or modulate the <jats:styled-content style=\"fixed-case\">CDA<\/jats:styled-content> phenotype or support the correct diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.13112","type":"journal-article","created":{"date-parts":[[2018,6,14]],"date-time":"2018-06-14T15:12:44Z","timestamp":1528989164000},"page":"368-378","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Clinical and genetic features of congenital dyserythropoietic anemia 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