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

Dean R. Campagna; Charlotte I. de Bie; Klaus Schmitz-Abe; Marion Sweeney; Anoop K. Sendamarai; Paul J. Schmidt; Matthew M. Heeney; Helger G. Yntema; Caroline Kannengiesser; Bernard Grandchamp; Charlotte M. Niemeyer; Nine V. A. M. Knoers; Sonia Swart; Gordon Marron; Richard van Wijk; Reinier A. Raymakers; Alison May; Kyriacos Markianos; Syliva S. Bottomley; Dorine W. Swinkels; Mark D. Fleming

doi:10.1002/ajh.23616

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

Dean R. Campagna, Charlotte I. de Bie, Klaus Schmitz-Abe, Marion Sweeney, Anoop K. Sendamarai, Paul J. Schmidt, Matthew M. Heeney, Helger G. Yntema, Caroline Kannengiesser, Bernard Grandchamp, Charlotte M. Niemeyer, Nine V. A. M. Knoers, Sonia Swart, Gordon Marron, Richard van Wijk, Reinier A. Raymakers, Alison May, Kyriacos Markianos, Syliva S. Bottomley, Dorine W. SwinkelsMark D. Fleming (Lead / Corresponding author)

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

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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 - Mar 2014

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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, N. V. A. M., Swart, S., Marron, G., van Wijk, R., Raymakers, R. A., 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{52c52a4fbf3347e6a1578653f589b96b,

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.",

author = "Campagna, {Dean R.} and {de Bie}, {Charlotte I.} and Klaus Schmitz-Abe and Marion Sweeney and Sendamarai, {Anoop K.} and Schmidt, {Paul J.} and Heeney, {Matthew M.} and Yntema, {Helger G.} and Caroline Kannengiesser and Bernard Grandchamp and Niemeyer, {Charlotte M.} and Knoers, {Nine V. A. M.} and Sonia Swart and Gordon Marron and {van Wijk}, Richard and Raymakers, {Reinier A.} and Alison May and Kyriacos Markianos and Bottomley, {Syliva S.} and Swinkels, {Dorine W.} and Fleming, {Mark D.}",

year = "2014",

month = mar,

doi = "10.1002/ajh.23616",

language = "English",

volume = "89",

pages = "315--319",

journal = "American Journal of Hematology",

issn = "0361-8609",

publisher = "Wiley",

number = "3",

}

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, NVAM, Swart, S, Marron, G, van Wijk, R, Raymakers, RA, 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, Dean R.

AU - de Bie, Charlotte I.

AU - Schmitz-Abe, Klaus

AU - Sweeney, Marion

AU - Sendamarai, Anoop K.

AU - Schmidt, Paul J.

AU - Heeney, Matthew M.

AU - Yntema, Helger G.

AU - Kannengiesser, Caroline

AU - Grandchamp, Bernard

AU - Niemeyer, Charlotte M.

AU - Knoers, Nine V. A. M.

AU - Swart, Sonia

AU - Marron, Gordon

AU - van Wijk, Richard

AU - Raymakers, Reinier A.

AU - May, Alison

AU - Markianos, Kyriacos

AU - Bottomley, Syliva S.

AU - Swinkels, Dorine W.

AU - Fleming, Mark D.

PY - 2014/3

Y1 - 2014/3

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.

UR - http://www.scopus.com/inward/record.url?scp=84896828347&partnerID=8YFLogxK

U2 - 10.1002/ajh.23616

DO - 10.1002/ajh.23616

M3 - Article

AN - SCOPUS:84896828347

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

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