{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T08:59:23Z","timestamp":1780563563598,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,12,22]],"date-time":"2024-12-22T00:00:00Z","timestamp":1734825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%\u201350% of patients. This phenotypic variability is partially explained by genotype\u2013phenotype correlations, with several ribosomal protein genes implicated in this disorder. Most cases are due to de novo variants, but familial occurrences highlight variable expressivity and reduced penetrance. To date, one case has been previously reported with a pathogenic variant in the <jats:italic>RPL26<\/jats:italic> gene: a 3.5\u2010year\u2010old female with multiple congenital anomalies and typical hematological features of DBA. Here, we report a novel frameshift variant in <jats:italic>RPL26<\/jats:italic> identified in a proband and his brother with limb malformations without anemia. Decreased RPL26 protein levels were detected in the proband's lymphoblasts. Subsequent clinical workup revealed high erythrocyte adenosine deaminase activity (eADA) in the proband, without anemia. This family represents the second report of <jats:italic>RPL26<\/jats:italic>\u2010associated congenital anomalies in the DBA spectrum and further illustrates the non\u2010hematological presentation of Diamond Blackfan \u201canemia\u201d.<\/jats:p>","DOI":"10.1002\/ajmg.a.63954","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T03:33:53Z","timestamp":1734924833000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Familial <i>RPL26<\/i> Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia"],"prefix":"10.1002","volume":"197","author":[{"given":"Lisa M.","family":"Karger","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6174-4677","authenticated-orcid":false,"given":"Bryn D.","family":"Webb","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Wisconsin School of Medicine and Public Health  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Edelmann","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Department of Pathology and Cell Biology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lakshmi","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Division of Clinical Genetics, Department of Pediatrics Morgan Stanley Children's Hospital and Columbia University Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,22]]},"reference":[{"key":"e_1_2_11_2_1","first-page":"318","volume-title":"Hematology","author":"Bagby G. 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