{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T17:47:51Z","timestamp":1790531271641,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,25]],"date-time":"2019-03-25T00:00:00Z","timestamp":1553472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>RAD51<\/jats:italic> is the only identified autosomal dominant gene to date causative of Fanconi anemia (FA) due to dominant negative effects. Only two patients with RAD51\u2010associated FA have been reported with atypical FA phenotypes without bone marrow failure. We describe a new Asian patient with a novel <jats:italic>RAD51<\/jats:italic> mutation, presenting with multiple congenital anomalies and atypical FA with chromosomal instability. The patient was a 9\u2010year\u2010old Japanese girl. She had strabismus, myopia, submucous cleft palate, bilateral hearing impairment, and scoliosis. She also had growth retardation, developmental delay, and severe intellectual disability. We performed trio whole exome sequencing and Sanger sequencing and identified a de novo <jats:italic>RAD51<\/jats:italic> mutation (c.725A&gt;G, p.Gln242Arg). Isolated lymphocytes from the patient were hypersensitive to chromosomal breakage induced by the DNA cross\u2010linking agent, mitomycin C. Our detailed phenotypic analysis of the <jats:italic>RAD51<\/jats:italic>\u2010associated atypical FA revealed clinical manifestations from the diverse population and a consistent FA phenotype characterized by chromosome instability, intellectual disability, radial ray abnormality, and microcephaly, but not bone marrow failure.<\/jats:p>","DOI":"10.1002\/ajmg.a.61130","type":"journal-article","created":{"date-parts":[[2019,3,25]],"date-time":"2019-03-25T10:03:35Z","timestamp":1553508215000},"page":"900-902","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["A Japanese patient with <i>RAD51<\/i>\u2010associated Fanconi anemia"],"prefix":"10.1002","volume":"179","author":[{"given":"Satoshi","family":"Takenaka","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Tokyo  Tokyo 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