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. Swinkels

Mark D. Fleming (Lead / Corresponding author)

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

48 Citations (Scopus)

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 - https://www.scopus.com/pages/publications/84896828347

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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