{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T12:33:47Z","timestamp":1789389227832,"version":"build-2803163510"},"reference-count":18,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T00:00:00Z","timestamp":1507248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1. Our family confirms again that one mutation can be associated with different phenotypes and different hematological manifestations. It\u2019s possible to speculate that there are likely to be patients who do not clinically fit neatly into either classical DC or HHS, but whose clinical features are due to mutations in DKC1 or in genes responsible for autosomal DC\/HHS.<\/jats:p>","DOI":"10.4081\/pr.2017.7301","type":"journal-article","created":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T09:03:40Z","timestamp":1507280620000},"page":"7301","source":"Crossref","is-referenced-by-count":9,"title":["Clinical Heterogeneity in a Family with DKC1 Mutation, Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome in First Cousins"],"prefix":"10.3390","volume":"9","author":[{"given":"Cristina","family":"Olivieri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Mondino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Chinello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Risso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Finale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Lanciotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Guala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2017,10,6]]},"reference":[{"key":"ref1","first-page":"219","article-title":"Atrophia cutis reticularis cum pigmentione, dystrophia unguium et leukokeratosis oris","volume":"5","author":"Zinsser","year":"1906","journal-title":"Ikonogr Dermatol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/bjh.13442","article-title":"Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder","volume":"170","author":"Glousker","year":"2015","journal-title":"Br J Haematol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1007\/s12185-015-1861-6","article-title":"Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan","volume":"102","author":"Yamaguchi","year":"2015","journal-title":"Int J Hematol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.2007.00923.x","article-title":"Dyskeratosis congenita: a genetic disorder of many faces","volume":"73","author":"Kirwan","year":"2008","journal-title":"Clin Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.biochi.2007.07.017","article-title":"Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex","volume":"90","author":"Vulliamy","year":"2008","journal-title":"Biochimie"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"3831","DOI":"10.1016\/j.febslet.2010.05.019","article-title":"Dyskeratosis congenita","volume":"584","author":"Bessler","year":"2010","journal-title":"FEBS Lett"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1046\/j.1365-2141.2000.02109.x","article-title":"Dyskeratosis congenita in all its forms","volume":"110","author":"Dokal","year":"2000","journal-title":"Br J Haematol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/BF01957367","article-title":"The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia","volume":"154","author":"Aalfs","year":"1995","journal-title":"Eur J Pediatr"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.hoc.2009.01.003","article-title":"Dyskeratosis congenita","volume":"23","author":"Savage","year":"2009","journal-title":"Hematol Oncol Clin North Am"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/j.1525-1470.2010.01299.x","article-title":"Dyskeratosis congenita: two siblings with a new missense mutation in the DKC1 gene","volume":"28","author":"Coelho","year":"2011","journal-title":"Pediatr Dermatol"},{"key":"ref11","first-page":"122","article-title":"A recurrent p. A353V mutation in DKC1 responsible for different phenotypes of dyskeratosis congenita in a Chinese family","volume":"63","author":"Lai","year":"2011","journal-title":"J Dermatol Sci"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1182\/blood-2005-07-2622","article-title":"Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation","volume":"107","author":"Vulliamy","year":"2006","journal-title":"Blood"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1111\/j.1601-5037.2009.00364.x","article-title":"Dyskeratosis congenita: clinical report and review of the literature","volume":"8","author":"Baran","year":"2010","journal-title":"Int J Dent Hyg"},{"key":"ref14","first-page":"E369","article-title":"Dyskeratosis congenita. Report of a case with literature review","volume":"12","author":"Auluck","year":"2007","journal-title":"Med Oral Patol Oral Cir Bucal"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1097\/GIM.0b013e3181f415b5","article-title":"The genetics and clinical manifestations of telomere biology disorders","volume":"12","author":"Savage","year":"2010","journal-title":"Genet Med"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1053\/j.seminhematol.2006.04.001","article-title":"Dyskeratosis congenita","volume":"43","author":"Vulliamy","year":"2006","journal-title":"Semin Hematol"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1002\/ajmg.a.32412","article-title":"An intronic mutation in DKC1 in an infant with H\u00f8yeraal-Hreidarsson syndrome","volume":"146A","author":"Pearson","year":"2008","journal-title":"Am J Med Genet A"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1093\/hmg\/ddr504","article-title":"The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita","volume":"21","author":"Zeng","year":"2012","journal-title":"Hum Mol Genet"}],"container-title":["Pediatric Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pagepress.org\/journals\/index.php\/pr\/article\/viewFile\/7301\/7046","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.pagepress.org\/journals\/index.php\/pr\/article\/viewFile\/7301\/7085","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mdpi.com\/2036-7503\/9\/3\/7301\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T03:59:48Z","timestamp":1644465588000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2036-7503\/9\/3\/7301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,6]]},"references-count":18,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2017,10]]}},"alternative-id":["pr.2017.7301"],"URL":"https:\/\/doi.org\/10.4081\/pr.2017.7301","relation":{},"ISSN":["2036-7503"],"issn-type":[{"value":"2036-7503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,6]]}}}