X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations
SourceAmerican Journal of Hematology, 89, 3, (2014), pp. 315-319
Article / Letter to editor
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Laboratory of Genetic, Endocrine and Metabolic Diseases
American Journal of Hematology
SubjectRadboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences
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. Am. J. Hematol. 89:315-319, 2014. (c) 2013 Wiley Periodicals, Inc.
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