Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene

被引：6

作者：

Mendez, Manuel ^{[1
]}

Moreno-Carralero, Maria Isabel ^{[1
]}

Peri, Valeria L. ^{[2
]}

Camacho-Galan, Rafael ^{[3
]}

Bosch-Benitez, Jose M. ^{[2
]}

Huerta-Aragones, Jorge ^{[4
]}

Sanchez-Calero-Guilarte, Jorge ^{[5
]}

Moreno-Risco, Maria Belen ^{[6
]}

Alonso-Dominguez, Juan Manuel ^{[7
]}

Moran-Jimenez, Maria Jose ^{[1
]}

机构：

[1] Hosp 12 Octubre Imas12, Inst Invest Sanitaria, Madrid, Spain

[2] Complejo Hosp Insular Materno Infantil, Serv Hematol, Las Palmas Gran Canaria, Spain

[3] Hosp Univ Doctor Negrin, Serv Anat Patol, Las Palmas Gran Canaria, Spain

[4] Hosp Maternoinfantil Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Serv Pediat, Secc Oncol & Hematol Pediat & Adolescente, Madrid, Spain

[5] Hosp Mostoles, Serv Hematol, Madrid, Spain

[6] Hosp Materno Infantil, Serv Hematol & Hemoterapia, Badajoz, Spain

[7] Fdn Inst Invest Sanitaria Fdn Jimenez Diaz IIS FJ, Serv Hematol, Fdn Jimenez Diaz, Grp Hematol Expt, Madrid, Spain

来源：

ANNALS OF HEMATOLOGY | 2021年 / 100卷 / 02期

关键词：

CDA types Ib; II and III; CDIN1; SEC23B and KIF23 genes; NUCLEAR-LOCALIZATION; SEC23B GENE; MUTATIONS; IDENTIFICATION; PATIENT; SPECTRUM; FAMILY; COHORT; CDAII;

D O I：

10.1007/s00277-020-04319-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：353 / 364

页数：12

共 49 条

[1]

ACCAME E A, 1981, Sangre (Saragossa), V26, P545

[2] Structure modeling to function prediction of Uncharacterized Human Protein C15orf41 [J].

Ahmed, Md. Shakil ;

Shahjaman, Md. ;

Kabir, Enamul ;

Kamruzzaman, Md. .

BIOINFORMATION, 2018, 14 (05) :206-212

[3] E109K Is a SEC23B Founder Mutation among Israeli Moroccan Jewish Patients with Congenital Dyserythropoietic Anemia Type II [J].

Amir, Achiya ;

Dgany, Orly ;

Krasnov, Tanya ;

Resnitzky, Peretz ;

Mor-Cohen, Ronit ;

Bennett, Michael ;

Berrebi, Alain ;

Tamary, Hannah .

ACTA HAEMATOLOGICA, 2011, 125 (04) :202-207

[4] A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia [J].

Arnaud, Lionel ;

Saison, Carole ;

Helias, Virginie ;

Lucien, Nicole ;

Steschenko, Dominique ;

Giarratana, Marie-Catherine ;

Prehu, Claude ;

Foliguet, Bernard ;

Montout, Lory ;

de Brevern, Alexandre G. ;

Francina, Alain ;

Ripoche, Pierre ;

Fenneteau, Odile ;

Da Costa, Lydie ;

Peyrard, Thierry ;

Coghlan, Gail ;

Illum, Niels ;

Birgens, Henrik ;

Tamary, Hannah ;

Iolascon, Achille ;

Delaunay, Jean ;

Tchernia, Gil ;

Cartron, Jean-Pierre .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (05) :721-727

[5] Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I [J].

Babbs, Christian ;

Roberts, Nigel A. ;

Sanchez-Pulido, Luis ;

McGowan, Simon J. ;

Ahmed, Momin R. ;

Brown, Jill M. ;

Sabry, Mohamed A. ;

Bentley, David R. ;

McVean, Gil A. ;

Donnelly, Peter ;

Gileadi, Opher ;

Ponting, Chris P. ;

Higgs, Douglas R. ;

Buckle, Veronica J. .

HAEMATOLOGICA, 2013, 98 (09) :1383-1387

[6] HEREDITARY BENIGN ERYTHRORETICULOSIS [J].

BERGSTROM, I ;

JACOBSSON, L .

BLOOD, 1962, 19 (03) :296-+

[7] Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations [J].

Bianchi, Paola ;

Schwarz, Klaus ;

Hoegel, Josef ;

Fermo, Elisa ;

Vercellati, Cristina ;

Grosse, Regine ;

van Wijk, Richard ;

van zwieten, Rob ;

Barcellini, Wilma ;

Zanella, Alberto ;

Heimpel, Hermann .

BRITISH JOURNAL OF HAEMATOLOGY, 2016, 175 (04) :696-704

[8] Congenital Dyserythropoietic Anemia Type II (CDAII) is Caused by Mutations in the SEC23B Gene [J].

Bianchi, Paola ;

Fermo, Elisa ;

Vercellati, Cristina ;

Boschetti, Carla ;

Barcellini, Wilma ;

Iurlo, Alessandra ;

Marcello, Anna Paola ;

Righetti, Pier Giorgio ;

Zanella, Alberto .

HUMAN MUTATION, 2009, 30 (09) :1292-1298

[9] CONGENITAL DYSERYTHROPOIETIC ANEMIA IN TREATED HODGKINS-DISEASE [J].

BYRNES, RK ;

DHRU, R ;

BRADY, AM ;

GALEN, WP ;

HOPPER, B .

HUMAN PATHOLOGY, 1980, 11 (05) :485-486

[10] Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III [J].

Carreno-Tarragona, Gonzalo ;

Trapiello-Valbuena, Francisco ;

Aranda-Salom, Judit ;

Martinez-Lopez, Joaquin ;

Lumbreras, Carlos ;

Oliveira-Ramirez, Encarnacion ;

Diaz-Pedroche, Carmen .

ANNALS OF HEMATOLOGY, 2015, 94 (08) :1411-1412

← 1 2 3 4 5 →