{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:42:43Z","timestamp":1791294163563,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>RPS19<\/jats:italic> gene have been identified in 25% of individuals affected by Diamond\u2010Blackfan anemia (DBA), a congenital erythroblastopenia characterized by an aregenerative anemia and a variety of malformations. More than 60 mutations in the five coding exons of <jats:italic>RPS19<\/jats:italic> have been described to date. We previously reported a mutation (c.\u20101 + 26G&gt;T) and an insertion at \u2212631 upstream of ATG (c.\u2010147_\u2010146insGCCA) in the noncoding region. Because DBA phenotype is extremely heterogeneous from silent to severe and because haploinsufficiency seems to play a role in this process, it is likely that genetic variations in the noncoding regions affecting translation of RPS19 can modulate the phenotypic expression of DBA. However, to date, very few studies have addressed this question comprehensively. In this study, we performed detailed sequence analysis of the <jats:italic>RPS19<\/jats:italic> gene in 239 patients with DBA and 110 of their relatives. We found that 6.2% of the patients with DBA carried allelic variations upstream of ATG: 3.3% with c.\u20101 + 26G&gt;T; 2.5% with c.\u2010147_\u2010146insGCCA; and 0.4% with c.\u2010174G&gt;A. Interestingly, the c.\u2010147_\u2010146insGCCA, which has been found in a black American and French Caribbean control population, was not found in 500 Caucasian control chromosomes we studied. However, it was found in association with the same haplotype distribution of four intronic polymorphisms in our patients with DBA. Although a polymorphism, the frequency of this variant in the patients with DBA and its association with the same haplotype raises the possibility that this polymorphism and the other genetic variations in the noncoding region could play a role in DBA pathogenesis. Am. J. Hematol., 2010. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.21601","type":"journal-article","created":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T19:27:09Z","timestamp":1259695629000},"page":"111-116","source":"Crossref","is-referenced-by-count":10,"title":["Genetic variants in the noncoding region of <i>RPS19<\/i> gene in Diamond\u2010Blackfan anemia: Potential implications for phenotypic 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