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SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature
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  • Matthew Heeney,
  • Simon Berhe,
  • Dean Campagna,
  • Joseph Oved,
  • Peter Kurre,
  • Peter Shaw,
  • Juliana Teo,
  • Mayada Abu Shanap,
  • Hoda Hassab,
  • Bertil Glader,
  • Sanjay Shah,
  • Ayami Yoshimi,
  • Afshin Ameri,
  • Joseph Antin,
  • Jeanne Boudreaux,
  • Michael Briones,
  • Kathryn Dickerson,
  • Conrad Fernandez,
  • Roula Farah,
  • Henrik Hasle,
  • Sioban Keel,
  • Timothy Olson,
  • Jacquelyn Powers,
  • Melissa Rose,
  • Akiko Schimamura,
  • Sylvia Bottomley,
  • Mark Fleming
Matthew Heeney
Dana-Farber/Boston Children's Cancer and Blood Disorders Center

Corresponding Author:[email protected]

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Simon Berhe
Boston Children's Hospital Department of Pathology
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Dean Campagna
Boston Children's Hospital Department of Pathology
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Joseph Oved
The Children's Hospital of Philadelphia
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Peter Kurre
The Children's Hospital of Philadelphia
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Peter Shaw
Children's Hospital at Westmead
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Juliana Teo
Children's Hospital at Westmead
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Mayada Abu Shanap
King Hussein Medical Center
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Hoda Hassab
Alexandria University
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Bertil Glader
Lucile Packard Children's Hospital at Stanford Pediatrics
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Sanjay Shah
Phoenix Children's Hospital Center for Cancer and Blood Disorders
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Ayami Yoshimi
University of Freiburg
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Afshin Ameri
Augusta University
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Joseph Antin
Dana-Farber Cancer Institute
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Jeanne Boudreaux
Children's Healthcare of Atlanta Inc
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Michael Briones
Children's Healthcare of Atlanta Inc
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Kathryn Dickerson
The University of Texas Southwestern Medical Center
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Conrad Fernandez
Dalhousie University
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Roula Farah
Lebanese American University
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Henrik Hasle
Aarhus University Hospital
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Sioban Keel
Seattle Cancer Care Alliance
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Timothy Olson
The Children's Hospital of Philadelphia
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Jacquelyn Powers
Texas Children's Hospital
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Melissa Rose
Nationwide Children's Hospital
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Akiko Schimamura
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
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Sylvia Bottomley
The University of Oklahoma College of Medicine
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Mark Fleming
Boston Children's Hospital
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Abstract

The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Here we describe the clinical phenotype and genotypes of 31 individuals from 24 families, including 11 novel mutations. We also review the spectrum of reported mutations and genotypes associated with the disease, describe the unique localization of missense mutations in transmembrane domains and account for the reoccurrence of several alleles in different populations.
26 Jan 2021Submitted to Human Mutation
01 Feb 2021Submission Checks Completed
01 Feb 2021Assigned to Editor
04 Feb 2021Reviewer(s) Assigned
23 Feb 2021Review(s) Completed, Editorial Evaluation Pending
16 Mar 2021Editorial Decision: Revise Minor
03 Jun 20211st Revision Received
15 Jun 2021Submission Checks Completed
15 Jun 2021Assigned to Editor
15 Jun 2021Reviewer(s) Assigned
16 Jul 2021Review(s) Completed, Editorial Evaluation Pending
21 Jul 2021Editorial Decision: Accept