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

Matthew M. Heeney; Simon Berhe; Dean R. Campagna; Joseph H. Oved; Peter Kurre; Peter J. Shaw; Juliana Teo; Mayada A. Shanap; Hoda M. Hassab; Bertil E. Glader; Sanjay Shah; Ayami Yoshimi; Afshin Ameri; Joseph H. Antin; Jeanne Boudreaux; Michael Briones; Kathryn E. Dickerson; Conrad V. Fernandez; Roula Farah; Henrik Hasle; Sioban B. Keel; Timothy S. Olson; Jacquelyn M. Powers; Melissa J. Rose; Akiko Shimamura; Sylvia S. Bottomley; Mark D. Fleming

doi:10.1002/humu.24267

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

Matthew M. Heeney, Simon Berhe, Dean R. Campagna, Joseph H. Oved, Peter Kurre, Peter J. Shaw, Juliana Teo, Mayada A. Shanap, Hoda M. Hassab, Bertil E. Glader, Sanjay Shah, Ayami Yoshimi, Afshin Ameri, Joseph H. Antin, Jeanne Boudreaux, Michael Briones, Kathryn E. Dickerson, Conrad V. Fernandez, Roula Farah, Henrik HasleSioban B. Keel, Timothy S. Olson, Jacquelyn M. Powers, Melissa J. Rose, Akiko Shimamura, Sylvia S. Bottomley, Mark D. Fleming

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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 presence of several alleles in different populations.

Original language	English (US)
Pages (from-to)	1367-1383
Number of pages	17
Journal	Human mutation
Volume	42
Issue number	11
DOIs	https://doi.org/10.1002/humu.24267
State	Published - Nov 2021

Keywords

erythropoiesis
genetics
hematopoietic stem cell transplantation
iron
sideroblastic anemia

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.24267

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Heeney, M. M., Berhe, S., Campagna, D. R., Oved, J. H., Kurre, P., Shaw, P. J., Teo, J., Shanap, M. A., Hassab, H. M., Glader, B. E., Shah, S., Yoshimi, A., Ameri, A., Antin, J. H., Boudreaux, J., Briones, M., Dickerson, K. E., Fernandez, C. V., Farah, R., ... Fleming, M. D. (2021). SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. Human mutation, 42(11), 1367-1383. https://doi.org/10.1002/humu.24267

Heeney, MM, Berhe, S, Campagna, DR, Oved, JH, Kurre, P, Shaw, PJ, Teo, J, Shanap, MA, Hassab, HM, Glader, BE, Shah, S, Yoshimi, A, Ameri, A, Antin, JH, Boudreaux, J, Briones, M, Dickerson, KE, Fernandez, CV, Farah, R, Hasle, H, Keel, SB, Olson, TS, Powers, JM, Rose, MJ, Shimamura, A, Bottomley, SS & Fleming, MD 2021, 'SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature', Human mutation, vol. 42, no. 11, pp. 1367-1383. https://doi.org/10.1002/humu.24267

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

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 presence of several alleles in different populations.",

keywords = "erythropoiesis, genetics, hematopoietic stem cell transplantation, iron, sideroblastic anemia",

author = "Heeney, {Matthew M.} and Simon Berhe and Campagna, {Dean R.} and Oved, {Joseph H.} and Peter Kurre and Shaw, {Peter J.} and Juliana Teo and Shanap, {Mayada A.} and Hassab, {Hoda M.} and Glader, {Bertil E.} and Sanjay Shah and Ayami Yoshimi and Afshin Ameri and Antin, {Joseph H.} and Jeanne Boudreaux and Michael Briones and Dickerson, {Kathryn E.} and Fernandez, {Conrad V.} and Roula Farah and Henrik Hasle and Keel, {Sioban B.} and Olson, {Timothy S.} and Powers, {Jacquelyn M.} and Rose, {Melissa J.} and Akiko Shimamura and Bottomley, {Sylvia S.} and Fleming, {Mark D.}",

note = "Funding Information: The authors thank the patients and their families for participating. Susan Wong is acknowledged for administration of human subjects research protocols. R01 DK087992 and American Society of Hematology Bridge Grant (M.D.F) and RC2 DK122533 (M.D.F. and A.S.) Publisher Copyright: {\textcopyright} 2021 Wiley Periodicals LLC",

year = "2021",

month = nov,

doi = "10.1002/humu.24267",

language = "English (US)",

volume = "42",

pages = "1367--1383",

journal = "Human Mutation",

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AU - Heeney, Matthew M.

AU - Berhe, Simon

AU - Campagna, Dean R.

AU - Oved, Joseph H.

AU - Kurre, Peter

AU - Shaw, Peter J.

AU - Teo, Juliana

AU - Shanap, Mayada A.

AU - Hassab, Hoda M.

AU - Glader, Bertil E.

AU - Shah, Sanjay

AU - Yoshimi, Ayami

AU - Ameri, Afshin

AU - Antin, Joseph H.

AU - Boudreaux, Jeanne

AU - Briones, Michael

AU - Dickerson, Kathryn E.

AU - Fernandez, Conrad V.

AU - Farah, Roula

AU - Hasle, Henrik

AU - Keel, Sioban B.

AU - Olson, Timothy S.

AU - Powers, Jacquelyn M.

AU - Rose, Melissa J.

AU - Shimamura, Akiko

AU - Bottomley, Sylvia S.

AU - Fleming, Mark D.

N1 - Funding Information: The authors thank the patients and their families for participating. Susan Wong is acknowledged for administration of human subjects research protocols. R01 DK087992 and American Society of Hematology Bridge Grant (M.D.F) and RC2 DK122533 (M.D.F. and A.S.) Publisher Copyright: © 2021 Wiley Periodicals LLC

PY - 2021/11

Y1 - 2021/11

N2 - 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 presence of several alleles in different populations.

AB - 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 presence of several alleles in different populations.

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KW - genetics

KW - hematopoietic stem cell transplantation

KW - iron

KW - sideroblastic anemia

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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

Abstract

Keywords

ASJC Scopus subject areas

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