SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature-Reference-Cited by-同舟云学术

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature

Published:2021-08-05 Issue:11 Volume:42 Page:1367-1383
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Heeney Matthew M.¹,Berhe Simon²,Campagna Dean R.²,Oved Joseph H.³,Kurre Peter⁴,Shaw Peter J.⁵,Teo Juliana⁶,Shanap Mayada A.⁷,Hassab Hoda M.⁸,Glader Bertil E.⁹,Shah Sanjay¹⁰,Yoshimi Ayami¹¹,Ameri Afshin¹²,Antin Joseph H.¹³,Boudreaux Jeanne¹⁴,Briones Michael¹⁴,Dickerson Kathryn E.¹⁵,Fernandez Conrad V.¹⁶,Farah Roula¹⁷,Hasle Henrik¹⁸,Keel Sioban B.¹⁹,Olson Timothy S.²⁰,Powers Jacquelyn M.²¹,Rose Melissa J.²²,Shimamura Akiko¹,Bottomley Sylvia S.²³,Fleming Mark D.²^ORCID

Affiliation:

1. Division of Hematology, Dana‐Farber Boston Children's Cancer and Blood Disorders Center and Department of Pediatrics Harvard Medical School Boston Massachusetts USA

2. Department of Pathology Boston Children's Hospital and Harvard Medical School Boston Massachusetts USA

3. Cellular Therapy and Transplant Section, Division of Oncology and Comprehensive Bone Marrow Failure Center, Division of Hematology Children's Hospital of Philadelphia Philadelphia Philadelphia USA

4. Pediatric Comprehensive Bone Marrow Failure Center Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. BMT Services, Children's Hospital at Westmead; Faculty of Medicine and Health University of Sydney Sydney New South Wales Australia

6. Department of Haematology Children's Hospital at Westmead Sydney New South Wales Australia

7. King Hussein Medical Center Amman Jordan

8. Department of Paediatrics, Faculty of Medicine Alexandria University Alexandria Egypt

9. Division of Hematology‐Oncology Lucille Packard Children's Hospital Stanford California USA

10. Center for Cancer and Blood Disorders Phoenix Children's Hospital Phoenix Arizona USA

11. Department of Paediatrics and Adolescent Medicine, Division of Paediatric Haematology and Oncology, Medical Center, Faculty of Medicine University of Freiburg Freiburg Germany

12. Division of Pediatric Hematology/Oncology, Department of Pediatrics Augusta University Augusta Georgia USA

13. Hematopoietic Stem Cell Transplantation Program Dana‐Farber Cancer Institute, and Harvard Medical School Boston Massachusetts USA

14. Aflac Cancer and Blood Disorders Center Children's Healthcare of Atlanta and Emory University Atlanta Georgia USA

15. Department of Pediatrics University of Texas Southwestern Dallas Texas USA

16. Division of Hematology‐Oncology, IWH Center Dalhousie University Halifax Nova Scotia Canada

17. Department of Pediatrics Lebanese American University Medical Center Beirut Lebanon

18. Department of Pediatrics Aarhus University Hospital, Aarhus University Aarhus Denmark

19. Division of Hematology University of Washington and Seattle Cancer Care Alliance Seattle Washington USA

20. Cellular Therapy and Transplant Section, Division of Oncology and Comprehensive Bone Marrow Failure Center, Division of Hematology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

21. Texas Children's Hospital and Department of Pediatrics, Section of Hematology/Oncology Baylor College of Medicine Houston Texas USA

22. Division of Hematology & Oncology, Nationwide Children's Hospital, Department of Pediatrics The Ohio State University Columbus Ohio USA

23. Hematology‐Oncology Section University of Oklahoma College of Medicine Oklahoma City Oklahoma USA

Funder

American Society of Hematology

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24267

Reference33 articles.

1. Serine and glycine metabolism in cancer

2. Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing

3. [Clinical features and gene mutation spectrum in children with sideroblastic anemia];An W. B.;Zhongguo dang dai er ke za zhi = Chinese Journal of Contemporary Pediatrics,2019

4. Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus

5. Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

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