{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:00:18Z","timestamp":1790791218010,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,6,7]],"date-time":"2018-06-07T00:00:00Z","timestamp":1528329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"FCT - Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","award":["SFRH\/BD\/84650\/2010"],"award-info":[{"award-number":["SFRH\/BD\/84650\/2010"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:p>Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. <jats:italic>DNAJC21<\/jats:italic>, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of 5 unreported affected children and all individuals reported in the literature. All patients present features consistent with IBMFS: bone marrow failure, growth retardation, failure to thrive, developmental delay, recurrent infections, and skin, teeth or hair abnormalities. Additional features present in some individuals include retinal abnormalities, pancreatic insufficiency, liver cirrhosis, skeletal abnormalities, congenital hip dysplasia, joint hypermobility, and cryptorchidism. We suggest that <jats:italic>DNAJC21<\/jats:italic>\u2010related diseases constitute a distinct IBMFS, with features overlapping Shwachman\u2010Diamond syndrome and Dyskeratosis congenita, and additional characteristics that are specific to <jats:italic>DNAJC21<\/jats:italic> mutations. The full phenotypic spectrum, natural history, and optimal management will require more reports. Considering the aplastic anemia, the possible increased risk for leukemia, and the multisystemic features, we provide a checklist for clinical evaluation at diagnosis and regular follow\u2010up.<\/jats:p>","DOI":"10.1111\/cge.13370","type":"journal-article","created":{"date-parts":[[2018,4,27]],"date-time":"2018-04-27T04:39:51Z","timestamp":1524803991000},"page":"252-258","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Refining the phenotype associated with biallelic <i>DNAJC21<\/i> mutations"],"prefix":"10.1111","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1068-3154","authenticated-orcid":false,"given":"G.","family":"D'Amours","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Lopes","sequence":"additional","affiliation":[{"name":"Centre de Recherche CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"Life and Health Sciences Research Institute (ICVS), School of Medicine University of Minho  Braga Portugal"},{"name":"ICVS\/3B's \u2013 PT Government Associate Laboratory  Braga\/Guimar\u00e3es Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Gauthier","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic Mol\u00e9culaire CHU Sainte\u2010Justine  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Saillour","sequence":"additional","affiliation":[{"name":"Centre de Recherche CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"Centre Int\u00e9gr\u00e9 de G\u00e9nomique Clinique P\u00e9diatrique  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Nassif","sequence":"additional","affiliation":[{"name":"Centre de Recherche CHU Sainte\u2010Justine  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Wynn","sequence":"additional","affiliation":[{"name":"Blood and Marrow Transplant Unit Royal Manchester Children's Hospital  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Alos","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"D\u00e9partement de P\u00e9diatrie Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Leblanc","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'H\u00e9matologie P\u00e9diatrique CHU Robert\u2010Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Capri","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique CHU Robert\u2010Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Nizard","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"D\u00e9partement de P\u00e9diatrie Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Lemyre","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"D\u00e9partement de P\u00e9diatrie Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.L.","family":"Michaud","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"Centre de Recherche CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"Centre Int\u00e9gr\u00e9 de G\u00e9nomique Clinique P\u00e9diatrique  Montr\u00e9al Canada"},{"name":"D\u00e9partement de P\u00e9diatrie Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.\u2010A.","family":"Pelletier","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"},{"name":"D\u00e9partement de P\u00e9diatrie CHU Sainte\u2010Justine  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.D.","family":"Pastore","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"},{"name":"Service d'H\u00e9matologie\u2010Oncologie CHU Sainte\u2010Justine  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010F.","family":"Soucy","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"Laboratoire de Diagnostic Mol\u00e9culaire CHU Sainte\u2010Justine  Montr\u00e9al Canada"},{"name":"D\u00e9partement de P\u00e9diatrie Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,6,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14535"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-08-735431"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-09-806489"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b5cae"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0113747"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.220"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.114389"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1720427115"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402560101"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13370","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T17:34:06Z","timestamp":1694280846000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,7]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1111\/cge.13370"],"URL":"https:\/\/doi.org\/10.1111\/cge.13370","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,7]]},"assertion":[{"value":"2018-02-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}