Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III

被引：5

作者：

Hernandez, Gonzalo ^{[1
,2
]}

Romero-Cortadellas, Lidia ^{[1
]}

Ferrer-Cortes, Xenia ^{[1
,2
]}

Venturi, Veronica ^{[1
]}

Dessy-Rodriguez, Mercedes ^{[3
,4
,5
]}

Olivella, Mireia ^{[6
]}

Husami, Ammar ^{[7
,8
]}

Perez de Soto, Concepcion ^{[9
]}

Morales-Camacho, Rosario M. ^{[10
]}

Villegas, Ana ^{[11
]}

Gonzalez-Fernandez, Fernando-Ataulfo ^{[11
]}

Morado, Marta ^{[12
]}

Kalfa, Theodosia A. ^{[8
,13
]}

Quintana-Bustamante, Oscar ^{[3
,4
,5
]}

Perez-Montero, Santiago ^{[2
]}

Tornador, Cristian ^{[2
]}

Segovia, Jose-Carlos ^{[3
,4
,5
]}

Sanchez, Mayka ^{[1
,2
]}

机构：

[1] UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, Spain

[2] BloodGenet SL Diagnost Inherited Blood Dis, Esplugas de Llobregat, Spain

[3] Ctr Invest Energet Medioambientales & Tecnol CIEM, Cell Technol Div, Biomed Innovat Unit, Madrid, Spain

[4] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain

[5] Inst Invest Sanitaria Fdn Jimenez, Unidad Mixta Terapias Avanzadas, Madrid, Spain

[6] Univ Vic Univ Cent Catalunya Uvic UCC, Dept Biosci, Fac Sci & Technol FCT, Vic, Spain

[7] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH USA

[8] Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

[9] HHUUVR, UGC HH, Hosp Univ Virgen del Rocio, Serv Pediat Hematol, Seville, Spain

[10] Univ Seville, Hosp Univ Virgen del Rocio, Inst Biomed Sevilla IBIS CISC CIBERONC, Dept Hematol, Seville, Spain

[11] Univ Complutense, Hosp Clin San Carlos, Dept Hematol, Madrid, Spain

[12] Hosp La Paz, Dept Hematol, Madrid, Spain

[13] Cincinnati Childrens Hosp Med Ctr, Div Hematol, Cincinnati, OH USA

来源：

HAEMATOLOGICA | 2023年 / 108卷 / 02期

关键词：

CDA III; CENTRALSPINDLIN; PATIENT; FAMILY;

D O I：

10.3324/haematol.2022.281277

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：581 / 587

页数：7

共 15 条

[1] Diagnosis and management of congenital dyserythropoietic anemias [J].

Gambale, Antonella ;

Iolascon, Achille ;

Andolfo, Immacolata ;

Russo, Roberta .

EXPERT REVIEW OF HEMATOLOGY, 2016, 9 (03) :283-296

[2] G Protein-Coupled Estrogen Receptor Regulates Actin Cytoskeleton Dynamics to Impair Cell Polarization [J].

Lachowski, Dariusz ;

Cortes, Ernesto ;

Matellan, Carlos ;

Rice, Alistair ;

Lee, David A. ;

Thorpe, Stephen D. ;

del Rio Hernandez, Armando E. .

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2020, 8

[3] Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23 [J].

Liljeholm, Maria ;

Irvine, Andrew F. ;

Vikberg, Ann-Louise ;

Norberg, Anna ;

Month, Stacy ;

Sandstrom, Herbert ;

Wahlin, Anders ;

Mishima, Masanori ;

Golovleva, Irina .

BLOOD, 2013, 121 (23) :4791-4799

[4]

LIND L, 1993, AM J HUM GENET, V53, P1035

[5] 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 [J].

Mendez, Manuel ;

Moreno-Carralero, Maria Isabel ;

Peri, Valeria L. ;

Camacho-Galan, Rafael ;

Bosch-Benitez, Jose M. ;

Huerta-Aragones, Jorge ;

Sanchez-Calero-Guilarte, Jorge ;

Moreno-Risco, Maria Belen ;

Alonso-Dominguez, Juan Manuel ;

Moran-Jimenez, Maria Jose .

ANNALS OF HEMATOLOGY, 2021, 100 (02) :353-364

[6] Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR) [J].

Niss, Omar ;

Lorsbach, Robert B. ;

Berger, Mikaela ;

Chonat, Satheesh ;

McLemore, Morgan ;

Buchbinder, David ;

McCavit, Timothy ;

Shaffer, Linda G. ;

Simpson, Jessica ;

Schwartz, Jeffrey H. ;

Meznarich, Jessica ;

Emberesh, Myesa ;

Seu, Katie G. ;

Zhang, Wenying ;

Kalfa, Theodosia A. .

BLOOD CELLS MOLECULES AND DISEASES, 2021, 87

[7] Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia [J].

Oh, A. ;

Patel, P. R. ;

Aardsma, N. ;

Mehendale, S. R. ;

Chowdhery, R. ;

Sweiss, K. ;

Rondelli, D. .

BONE MARROW TRANSPLANTATION, 2017, 52 (06) :905-906

[8] Cooperative assembly of CYK-4/MgcRacGAP and ZEN-4/MKLP1 to form the centralspindlin complex [J].

Pavicic-Kaltenbrunner, Visnja ;

Mishima, Masanori ;

Glotzer, Michael .

MOLECULAR BIOLOGY OF THE CELL, 2007, 18 (12) :4992-5003

[9] Skull erythropoiesis in a patient with congenital dyserythropoietic anaemia [J].

Perez-Jacoiste Asin, Maria Asuncion ;

Ruiz Robles, Gemma .

LANCET, 2016, 387 (10020) :787-787

[10] Cell Division: Switching On ECT2 in a Non-Canonical Fashion [J].

Petronczki, Mark ;

Tedeschi, Antonio .

CURRENT BIOLOGY, 2020, 30 (16) :R947-R949

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