{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T11:04:13Z","timestamp":1793531053850,"version":"4.5.0"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,6,18]],"date-time":"2014-06-18T00:00:00Z","timestamp":1403049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012465","name":"Nemours Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012465","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NIH-NIGMS","award":["P20GM103464"],"award-info":[{"award-number":["P20GM103464"]}]},{"name":"NIH-NIGMS","award":["P20GM103446"],"award-info":[{"award-number":["P20GM103446"]}]},{"DOI":"10.13039\/100000051","name":"NIH-National Human Genome Research Institute","doi-asserted-by":"crossref","award":["U54 HG006493"],"award-info":[{"award-number":["U54 HG006493"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Patients with physical findings suggestive of Treacher Collins syndrome (TCS) or mandibulofacial dysostosis (MFD) and macrocytic anemia diagnostic of Diamond\u2013Blackfan anemia (DBA) have been reported. Disease\u2010causing genes have been identified for TCS and other MFDs. Mutations in several ribosomal protein genes and the transcription factor GATA1 result in DBA. However, no disease\u2010causing mutation had been identified in the reported patients with the combination of TCS\/MFD and DBA phenotype, and we hypothesized that pathogenic mutations in a single gene could be identified using whole exome analysis. We studied probands from six unrelated families. Combining exome analysis and Sanger sequencing, we identified likely pathogenic mutations in 5\/6 families. Two mutations in unrelated families were seen in\n                      <jats:italic>RPS26<\/jats:italic>\n                      , the known DBA10 gene. One variant was predicted to affect mRNA splicing, and the other to lead to protein truncation. In another family a likely pathogenic X\u2010linked mutation affecting a highly conserved residue was found in\n                      <jats:italic>TSR2<\/jats:italic>\n                      , which encodes a direct binding partner of RPS26. De novo mutations affecting the\n                      <jats:italic>RPS28<\/jats:italic>\n                      start codon were found in two unrelated probands, identifying\n                      <jats:italic>RPS28<\/jats:italic>\n                      as a novel disease gene. We conclude that the phenotype combining features of TCS with DBA is genetically heterogeneous. Each of the pathogenic variants identified is predicted to impede ribosome biogenesis, which in turn could result in altered cell growth and proliferation, causing abnormal embryologic development, defective erythropoiesis and reduced growth. The phenotype combining TCS\/MFD and DBA is highly variable, overlaps with DBA and lies within the phenotypic spectrum of ribosomopathies. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36633","type":"journal-article","created":{"date-parts":[[2014,6,18]],"date-time":"2014-06-18T19:20:45Z","timestamp":1403119245000},"page":"2240-2249","source":"Crossref","is-referenced-by-count":146,"title":["Diamond\u2013Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes\n                    <i>TSR2<\/i>\n                    and\n                    <i>RPS28<\/i>"],"prefix":"10.1002","volume":"164","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8200-1733","authenticated-orcid":false,"given":"Karen W.","family":"Gripp","sequence":"first","affiliation":[{"name":"Division of Medical Genetics A. I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Curry","sequence":"additional","affiliation":[{"name":"University of California San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann Haskins","family":"Olney","sequence":"additional","affiliation":[{"name":"Munroe\u2010Meyer Institute for Genetics and Rehabilitation University of Nebraska Medical Center Omaha Nebraska"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Sandoval","sequence":"additional","affiliation":[{"name":"Department of Pediatrics New York Medical College Valhalla New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie","family":"Fisher","sequence":"additional","affiliation":[{"name":"Genetic Medicine Central California Fresno California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica Xiao\u2010Ling","family":"Chong","sequence":"additional","affiliation":[{"name":"University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"UW Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Pilchman","sequence":"additional","affiliation":[{"name":"Department of Biomedical Research Nemours' Children's Clinic Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sahraoui","sequence":"additional","affiliation":[{"name":"Department of Biomedical Research Nemours' Children's Clinic Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah L.","family":"Stabley","sequence":"additional","affiliation":[{"name":"Department of Biomedical Research Nemours' Children's Clinic Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Sol\u2010Church","sequence":"additional","affiliation":[{"name":"Department of Biomedical Research Nemours' Children's Clinic Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,6,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.004"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1234864"},{"key":"e_1_2_8_6_1","volume-title":"GeneReviews\u2122 [Internet]","author":"Clinton 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