{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:10:24Z","timestamp":1792782624114,"version":"4.5.0"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,9,3]],"date-time":"2009-09-03T00:00:00Z","timestamp":1251936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH","award":["R01 DK080011"],"award-info":[{"award-number":["R01 DK080011"]}]},{"name":"NIH","award":["K08 HL089150"],"award-info":[{"award-number":["K08 HL089150"]}]},{"name":"NIH","award":["K24 HL004184"],"award-info":[{"award-number":["K24 HL004184"]}]},{"name":"The U.S. Department of Veterans Affairs","id":[{"id":"https:\/\/ror.org\/05rsv9s98","id-type":"ROR","asserted-by":"crossref"}]},{"name":"University of Oklahoma Health Sciences Center Provost's Fund","id":[{"id":"https:\/\/ror.org\/0457zbj98","id-type":"ROR","asserted-by":"crossref"}]},{"name":"The Oklahoma Center for Advancement of Science and Technology"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Sideroblastic anemias are heterogeneous congenital and acquired bone marrow disorders characterized by pathologic iron deposits in mitochondria of erythroid precursors. Among the congenital sideroblastic anemias (CSAs), the most common form is X\u2010linked sideroblastic anemia, due to mutations in 5\u2010aminolevulinate synthase (ALAS2). A novel autosomal recessive CSA, caused by mutations in the erythroid specific mitochondrial transporter SLC25A38, was recently defined. Other known etiologies include mutations in genes encoding the thiamine transporter SLC19A2, the RNA\u2010modifying enzyme pseudouridine synthase 1 (PUS1), a mitochondrial ATP\u2010binding cassette transporter (ABCB7), glutaredoxin 5 (GLRX5), as well as mitochondrial DNA deletions. Despite these known diverse causes, in a substantial portion of CSA cases a presumed genetic defect remains unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Procedure<\/jats:title>\n                    <jats:p>\n                      In the context of the recent discovery of SLC25A38 as a major novel cause, we systematically analyzed a large cohort of previously unreported CSA patients. Sixty CSA probands (28 females, 32 males) were examined for\n                      <jats:italic>ALAS2<\/jats:italic>\n                      ,\n                      <jats:italic>SLC25A38<\/jats:italic>\n                      ,\n                      <jats:italic>PUS1<\/jats:italic>\n                      ,\n                      <jats:italic>GLRX5<\/jats:italic>\n                      , and\n                      <jats:italic>ABCB7<\/jats:italic>\n                      mutations.\n                      <jats:italic>SLC19A2<\/jats:italic>\n                      and mitochondrial DNA were only analyzed if characteristic syndromic features were apparent.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twelve probands had biallelic mutations in\n                      <jats:italic>SLC25A38<\/jats:italic>\n                      . Seven\n                      <jats:italic>ALAS2<\/jats:italic>\n                      mutations were detected in eight sporadic CSA cases, two being novel. We also identified a novel homozygous null\n                      <jats:italic>PUS1<\/jats:italic>\n                      mutation and novel mitochondrial DNA deletions in two patients with Pearson syndrome. No mutations were encountered in\n                      <jats:italic>GLRX5<\/jats:italic>\n                      ,\n                      <jats:italic>ABCB7<\/jats:italic>\n                      , or\n                      <jats:italic>SLC19A2<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The remaining undefined probands (43%) can be grouped according to gender, family, and clinical characteristics, suggesting novel X\u2010linked and autosomal recessive forms of CSA. Pediatr Blood Cancer 2010;54:273\u2013278. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pbc.22244","type":"journal-article","created":{"date-parts":[[2009,9,3]],"date-time":"2009-09-03T11:57:36Z","timestamp":1251979056000},"page":"273-278","source":"Crossref","is-referenced-by-count":111,"title":["Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations"],"prefix":"10.1002","volume":"54","author":[{"given":"Anke K.","family":"Bergmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean R.","family":"Campagna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin M.","family":"McLoughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneet","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark D.","family":"Fleming","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia S.","family":"Bottomley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellis J.","family":"Neufeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,3]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"41","article-title":"Congenital sideroblastic anemias","volume":"5","author":"Bottomley SS","year":"2006","journal-title":"Curr Hematol Rep"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1053\/shem.2002.35637"},{"key":"e_1_2_6_4_2","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1097\/00000441-194505000-00001","article-title":"A severe type of hereditary anemia with elliptocytosis. 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