{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T16:20:35Z","timestamp":1783786835643,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,6,2]],"date-time":"2015-06-02T00:00:00Z","timestamp":1433203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"IRCCS Burlo Garofolo, the Italian Ministry of Health","award":["(Finalizzata 2010)"],"award-info":[{"award-number":["(Finalizzata 2010)"]}]},{"DOI":"10.13039\/501100002426","name":"Telethon Foundation","doi-asserted-by":"crossref","award":["(GGP11076)"],"award-info":[{"award-number":["(GGP11076)"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"crossref"}]},{"name":"AIRFA (Italian Association for Fanconi Anemia Research)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic anemia and increased risk of developing malignancies. FA is genetically heterogeneous as it is caused by at least 17 different genes. Among these, <jats:italic>FANCA<\/jats:italic>, <jats:italic>FANCC<\/jats:italic>, and <jats:italic>FANCG<\/jats:italic> account for approximately 85% of the patients whereas the remaining genes are mutated in only a small percentage of cases. For this reason, the molecular diagnostic process is complex and not always extended to all the FA genes, preventing the characterization of individuals belonging to rare groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The FA genes were analyzed using a next generation sequencing approach in two unrelated families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The analysis identified the same, c.484_485del, homozygous mutation of <jats:italic>FANCF<\/jats:italic> in both families. A careful examination of three electively aborted fetuses in one family and one affected girl in the other indicated an association of the <jats:italic>FANCF<\/jats:italic> loss\u2010of\u2010function mutation with a severe phenotype characterized by multiple malformations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The systematic use of next generation sequencing will allow the recognition of individuals from rare complementation groups, a better definition of their clinical phenotypes, and consequently, an appropriate genetic counseling. Birth Defects Research (Part A) 103:1003\u20131010, 2015. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23388","type":"journal-article","created":{"date-parts":[[2015,6,3]],"date-time":"2015-06-03T00:41:29Z","timestamp":1433292089000},"page":"1003-1010","source":"Crossref","is-referenced-by-count":6,"title":["Clinical aspects of Fanconi anemia individuals with the same mutation of <i>FANCF<\/i> identified by next generation sequencing"],"prefix":"10.1002","volume":"103","author":[{"given":"Elena","family":"Nicchia","sequence":"first","affiliation":[{"name":"Department of Medical Sciences University of Trieste Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Benedicenti","sequence":"additional","affiliation":[{"name":"Genetic Counseling Service, Department of Pediatrics Regional Hospital of Bolzano Bolzano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela De","family":"Rocco","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health \u2013 IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Greco","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health \u2013 IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Bottega","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health \u2013 IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Inzana","sequence":"additional","affiliation":[{"name":"Genetic Counseling Service, Department of Pediatrics Regional Hospital of Bolzano Bolzano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Faleschini","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences University of Trieste Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Bonin","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences University of Trieste Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Cappelli","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Hematology Unit G. 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