{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:42:45Z","timestamp":1789814565381,"version":"4.0.1"},"reference-count":56,"publisher":"American Society for Clinical Investigation","issue":"11","license":[{"start":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T00:00:00Z","timestamp":1748822400000},"content-version":"vor","delay-in-days":46,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NIH","award":["T32GM152349"],"award-info":[{"award-number":["T32GM152349"]}]},{"name":"NIH","award":["UL1 TR001866"],"award-info":[{"award-number":["UL1 TR001866"]}]},{"name":"Jacob Goldfield Foundation","award":["n\/a"],"award-info":[{"award-number":["n\/a"]}]},{"DOI":"10.13039\/100028921","name":"RTW Charitable Foundation","doi-asserted-by":"crossref","award":["n\/a"],"award-info":[{"award-number":["n\/a"]}],"id":[{"id":"10.13039\/100028921","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NIH","award":["RO1 GM140400"],"award-info":[{"award-number":["RO1 GM140400"]}]},{"DOI":"10.13039\/100012007","name":"The Rockefeller University","doi-asserted-by":"crossref","award":["n\/a"],"award-info":[{"award-number":["n\/a"]}],"id":[{"id":"10.13039\/100012007","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,2]]},"abstract":"<jats:p>\n                    Fanconi anemia (FA) is a rare genetic disease characterized by loss-of-function variants in any of the 22 previously identified genes (\n                    <jats:italic>FANCA<\/jats:italic>\n                    \u2013\n                    <jats:italic>FANCW<\/jats:italic>\n                    ) that encode proteins participating in the repair of DNA interstrand crosslinks (ICLs). Patient phenotypes are variable but may include developmental abnormalities, early-onset pancytopenia, and a predisposition to hematologic and solid tumors. Here, we describe 2 unrelated families with multiple pregnancy losses and offspring presenting with severe developmental and hematologic abnormalities leading to death in utero or in early life. Homozygous loss-of-function variants in\n                    <jats:italic>FAAP100<\/jats:italic>\n                    were identified in affected children of both families. The FAAP100 protein associates with FANCB and FANCL, the E3 ubiquitin ligase responsible for the monoubiquitination of FANCD2 and FANCI, which is necessary for FA pathway function. Patient-derived cells exhibited phenotypes consistent with FA. Expression of the WT\n                    <jats:italic>FAAP100<\/jats:italic>\n                    cDNA, but not the patient-derived variants, rescued the observed cellular phenotypes. This establishes FAAP100 deficiency as a cause of FA, with FAAP100 gaining an alias as FANCX. The extensive developmental malformations of individuals with\n                    <jats:italic>FAAP100<\/jats:italic>\n                    loss-of-function variants are among the most severe across previously described FA phenotypes, indicating that the FA pathway is essential for human development.\n                  <\/jats:p>","DOI":"10.1172\/jci185126","type":"journal-article","created":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T12:00:19Z","timestamp":1744891219000},"source":"Crossref","is-referenced-by-count":24,"title":["Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia"],"prefix":"10.1172","volume":"135","author":[{"given":"Benjamin A.","family":"Harrison","sequence":"first","affiliation":[{"name":"Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Mizrahi-Powell","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5625-2598","authenticated-orcid":true,"given":"John","family":"Pappas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Clinical Genetic Services, NYU Langone Medical Center, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Pathology, NYU Langone Health, New York University School of Medicine, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subrahmanya","family":"Vasishta","sequence":"additional","affiliation":[{"name":"Department of 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USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Woroch","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yara","family":"Kharbutli","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce D.","family":"Gelb","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences and"},{"name":"Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassie S.","family":"Mintz","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilad 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