{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T07:01:09Z","timestamp":1792479669929,"version":"4.5.0"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T00:00:00Z","timestamp":1500940800000},"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 of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Diamond\u2010Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond\u2010Blackfan anemia\u20107 (DBA7), caused by heterozygous mutations in <jats:italic>ribosomal protein L11<\/jats:italic> (<jats:italic>RPL11<\/jats:italic>), accounts for approximately 5% of DBA. DBA7 is usually characterized by early\u2010onset bone marrow failure often accompanied by congenital malformations, especially thumb defects. Here, we present the case of a 2\u2010year\u2010old boy with chronic mild normocytic anemia, short stature, bilateral underdevelopment of the thumbs, atrial septal defect, and hypospadias. Hematological testing revealed slightly decreased hematocrit and hemoglobin, normal HbF, and elevated eADA. Family history included maternal relatives with thumb defects, but the mother's thumbs were normal. Clinical exome sequencing detected a maternally\u2010inherited <jats:italic>RPL11<\/jats:italic> variant, c.396+3A&gt;G, that is predicted to affect splicing. A family correlation study of the identified variant demonstrates segregation with thumb anomalies in the mother's family. RNA studies suggest that the variant produces an alternative transcript that is likely susceptible to nonsense\u2010mediated decay. This report summarizes the prevalence of non\u2010anemia findings in DBA7 and describes a non\u2010classical familial presentation of DBA7 more associated with thumb anomalies than with anemia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38360","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T12:32:45Z","timestamp":1500985965000},"page":"2622-2627","source":"Crossref","is-referenced-by-count":20,"title":["Variable expressivity and incomplete penetrance in a large family with non\u2010classical Diamond\u2010Blackfan anemia associated with <i>ribosomal protein L11<\/i> splicing variant"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2901-8610","authenticated-orcid":false,"given":"Colleen M.","family":"Carlston","sequence":"first","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City Utah"},{"name":"ARUP Institute for Clinical and Experimental Pathology Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeinab A.","family":"Afify","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hematology &amp; Oncology University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice C.","family":"Palumbos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Bagley","sequence":"additional","affiliation":[{"name":"Intermountain Healthcare Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Barbagelata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Whitney L.","family":"Wooderchak\u2010Donahue","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City Utah"},{"name":"ARUP Institute for Clinical and Experimental Pathology Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City Utah"},{"name":"ARUP Institute for Clinical and Experimental Pathology Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6007-8518","authenticated-orcid":false,"given":"John C.","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,25]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"182","volume-title":"Nathan and Oski's Hematology of Infancy and Childhood","author":"Bessler M.","year":"2015"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21383"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20874"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12167"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.240"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.11.004"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12397"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-016-2151-7"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.020826"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2009.01.004"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V118.21.729.729"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.09.038"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2016.08.001"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.02.002"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2012.062281"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.011783"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14221"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000000587"},{"key":"e_1_2_7_20_1","doi-asserted-by":"crossref","unstructured":"Vlachos A. 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Diagnosing and treating Diamond Blackfan anaemia: Results of an international clinical consensus conference.859\u2013876.","DOI":"10.1111\/j.1365-2141.2008.07269.x"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-016-2044-9"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.13229"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38360","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38360","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38360","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38360","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T22:33:04Z","timestamp":1693348384000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,25]]},"references-count":21,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1002\/ajmg.a.38360"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38360","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,25]]}}}