X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

D.R. Campagna; C.I. de Bie; K. Schmitz-Abe; M. Sweeney; A.K. Sendamarai; P.J. Schmidt; M.M. Heeney; H.G. Yntema; C. Kannengiesser; B. Grandchamp; C.M. Niemeyer; V.V.A.M. Knoers; S. Swart; G. Marron; H.A. van Wijk; R.A.P. Raijmakers; A. May; K. Markianos; S.S. Bottomley; D.W. Swinkels; M.D. Fleming

doi:10.1002/ajh.23616

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

D.R. Campagna
, C.I. de Bie
, K. Schmitz-Abe
, M. Sweeney
, A.K. Sendamarai
, P.J. Schmidt
, M.M. Heeney
, H.G. Yntema
, C. Kannengiesser
, B. Grandchamp
, C.M. Niemeyer
, V.V.A.M. Knoers
, S. Swart
, G. Marron
, H.A. van Wijk
, R.A.P. Raijmakers
, A. May
, K. Markianos
, S.S. Bottomley
, D.W. Swinkels

M.D. Fleming

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

Abstract

X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). Here, we report five families with XLSA owing to mutations in a GATA transcription factor binding site located in a transcriptional enhancer element in intron 1 of the ALAS2 gene. As such, this study defines a new class of mutations that should be evaluated in patients undergoing genetic testing for a suspected diagnosis of XLSA.

Original language	English
Pages (from-to)	315-319
Number of pages	5
Journal	American Journal of Hematology
Volume	89
Issue number	3
DOIs	https://doi.org/10.1002/ajh.23616
Publication status	Published - 2014

Keywords

5-Aminolevulinate Synthetase
Adult
Aged
Anemia, Sideroblastic
Binding Sites
Enhancer Elements, Genetic
Europe
Female
GATA Transcription Factors
Genetic Diseases, X-Linked
Genotype
Humans
Introns
Male
Middle Aged
Mutation
Pedigree
Young Adult
Journal Article
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

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10.1002/ajh.23616

http://onlinelibrary.wiley.com/doi/10.1002/ajh.23616/abstract

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Campagna, D. R., de Bie, C. I., Schmitz-Abe, K., Sweeney, M., Sendamarai, A. K., Schmidt, P. J., Heeney, M. M., Yntema, H. G., Kannengiesser, C., Grandchamp, B., Niemeyer, C. M., Knoers, V. V. A. M., Swart, S., Marron, G., van Wijk, H. A., Raijmakers, R. A. P., May, A., Markianos, K., Bottomley, S. S., ... Fleming, M. D. (2014). X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. American Journal of Hematology, 89(3), 315-319. https://doi.org/10.1002/ajh.23616

@article{346c3166527c4d30810751134282406a,

title = "X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations",

abstract = "X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). Here, we report five families with XLSA owing to mutations in a GATA transcription factor binding site located in a transcriptional enhancer element in intron 1 of the ALAS2 gene. As such, this study defines a new class of mutations that should be evaluated in patients undergoing genetic testing for a suspected diagnosis of XLSA.",

keywords = "5-Aminolevulinate Synthetase, Adult, Aged, Anemia, Sideroblastic, Binding Sites, Enhancer Elements, Genetic, Europe, Female, GATA Transcription Factors, Genetic Diseases, X-Linked, Genotype, Humans, Introns, Male, Middle Aged, Mutation, Pedigree, Young Adult, Journal Article, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.",

author = "D.R. Campagna and \{de Bie\}, C.I. and K. Schmitz-Abe and M. Sweeney and A.K. Sendamarai and P.J. Schmidt and M.M. Heeney and H.G. Yntema and C. Kannengiesser and B. Grandchamp and C.M. Niemeyer and V.V.A.M. Knoers and S. Swart and G. Marron and \{van Wijk\}, H.A. and R.A.P. Raijmakers and A. May and K. Markianos and S.S. Bottomley and D.W. Swinkels and M.D. Fleming",

note = "Copyright {\textcopyright} 2013 Wiley Periodicals, Inc.",

year = "2014",

doi = "10.1002/ajh.23616",

language = "English",

volume = "89",

pages = "315--319",

journal = "American Journal of Hematology",

issn = "0361-8609",

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Campagna, DR, de Bie, CI, Schmitz-Abe, K, Sweeney, M, Sendamarai, AK, Schmidt, PJ, Heeney, MM, Yntema, HG, Kannengiesser, C, Grandchamp, B, Niemeyer, CM, Knoers, VVAM, Swart, S, Marron, G, van Wijk, HA , Raijmakers, RAP, May, A, Markianos, K, Bottomley, SS, Swinkels, DW & Fleming, MD 2014, 'X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations', American Journal of Hematology, vol. 89, no. 3, pp. 315-319. https://doi.org/10.1002/ajh.23616

TY - JOUR

T1 - X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

AU - Campagna, D.R.

AU - de Bie, C.I.

AU - Schmitz-Abe, K.

AU - Sweeney, M.

AU - Sendamarai, A.K.

AU - Schmidt, P.J.

AU - Heeney, M.M.

AU - Yntema, H.G.

AU - Kannengiesser, C.

AU - Grandchamp, B.

AU - Niemeyer, C.M.

AU - Knoers, V.V.A.M.

AU - Swart, S.

AU - Marron, G.

AU - van Wijk, H.A.

AU - Raijmakers, R.A.P.

AU - May, A.

AU - Markianos, K.

AU - Bottomley, S.S.

AU - Swinkels, D.W.

AU - Fleming, M.D.

PY - 2014

Y1 - 2014

N2 - X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). Here, we report five families with XLSA owing to mutations in a GATA transcription factor binding site located in a transcriptional enhancer element in intron 1 of the ALAS2 gene. As such, this study defines a new class of mutations that should be evaluated in patients undergoing genetic testing for a suspected diagnosis of XLSA.

AB - X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). Here, we report five families with XLSA owing to mutations in a GATA transcription factor binding site located in a transcriptional enhancer element in intron 1 of the ALAS2 gene. As such, this study defines a new class of mutations that should be evaluated in patients undergoing genetic testing for a suspected diagnosis of XLSA.

KW - 5-Aminolevulinate Synthetase

KW - Adult

KW - Aged

KW - Anemia, Sideroblastic

KW - Binding Sites

KW - Enhancer Elements, Genetic

KW - Europe

KW - Female

KW - GATA Transcription Factors

KW - Genetic Diseases, X-Linked

KW - Genotype

KW - Humans

KW - Introns

KW - Male

KW - Middle Aged

KW - Mutation

KW - Pedigree

KW - Young Adult

KW - Journal Article

KW - Research Support, N.I.H., Intramural

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, Non-P.H.S.

U2 - 10.1002/ajh.23616

DO - 10.1002/ajh.23616

M3 - Article

C2 - 24166784

SN - 0361-8609

VL - 89

SP - 315

EP - 319

JO - American Journal of Hematology

JF - American Journal of Hematology

IS - 3

ER -

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

Abstract

Keywords

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