A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia-Reference-Cited by-同舟云学术

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Published:2016-10-13 Issue:15 Volume:128 Page:1913-1917
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Lichtenstein Daniel A.¹,Crispin Andrew W.¹,Sendamarai Anoop K.¹,Campagna Dean R.¹,Schmitz-Abe Klaus²,Sousa Cristovao M.³,Kafina Martin D.⁴,Schmidt Paul J.¹,Niemeyer Charlotte M.⁵,Porter John⁶,May Alison⁷,Patnaik Mrinal M.⁸,Heeney Matthew M.⁹,Kimmelman Alec³¹⁰,Bottomley Sylvia S.¹¹,Paw Barry H.⁴,Markianos Kyriacos¹,Fleming Mark D.¹

Affiliation:

1. Department of Pathology and

2. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA;

3. Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA;

4. Division of Hematology, Brigham and Women’s Hospital and Boston Children’s Hospital, Boston, MA;

5. Department for Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany;

6. Division of Haematology, King's College, London, United Kingdom;

7. Department of Haematology, Cardiff University School of Medicine, Cardiff, United Kingdom;

8. Division of Hematology-Oncology, Mayo Clinic, Rochester, MN;

9. Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA;

10. Department of Radiation Oncology, New York University Langone Cancer Center, New York, NY; and

11. University of Oklahoma College of Medicine, Oklahoma City, OK

Abstract

Key Points A recurring mutation in NDUFB11 causes congenital sideroblastic anemia. The NDUFB11 p.93del mutation impairs erythroid proliferation, but not differentiation.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/128/15/1913/1395625/1913.pdf

Reference14 articles.

1. Sideroblastic anemia: diagnosis and management.;Bottomley;Hematol Oncol Clin North Am,2014

2. Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.;Fleming,2011

3. Sideroblasts, siderocytes, and sideroblastic anemia.;Cartwright;N Engl J Med,1975

4. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.;Burrage;Mol Genet Metab,2014

5. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).;Chakraborty;Blood,2014

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