| Literature DB >> 24166784 |
Dean R Campagna1, 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, Sylvia S Bottomley, Dorine W Swinkels, Mark D Fleming.
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.Entities:
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Year: 2013 PMID： 24166784 PMCID： PMC3943703 DOI： 10.1002/ajh.23616
Source DB: PubMed Journal: Am J Hematol ISSN： 0361-8609 Impact factor: 10.047