@article{b4daa22f6f0e45a8a4b41dcfea7d7c4f,
title = "Novel FANCI mutations in Fanconi anemia with VACTERL association",
abstract = "Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in DNA repair genes; some of these patients may have features of the VACTERL association. Autosomal recessive mutations in FANCI are a rare cause of FA. We identified FANCI mutations by next generation sequencing in three patients in our FA cohort among several whose mutated gene was unknown. Four of the six mutations are novel and all mutations are likely deleterious to protein function. There are now 16 reported cases of FA due to FANCI of whom 7 have at least 3 features of the VACTERL association (44%). This suggests that the VACTERL association in patients with FA may be seen in patients with FANCI mutations more often than previously recognized.",
keywords = "FANCI, Fanconi anemia, VACTERL association",
author = "{NCI DCEG Cancer Sequencing Working Group} and {NCI DCEG Cancer Genomics Research Laboratory} and Savage, {Sharon A.} and Ballew, {Bari J.} and Neelam Giri and Chandrasekharappa, {Settara C.} and Najim Ameziane and {de Winter}, Johan and Alter, {Blanche P.} and Sara Bass and Joseph Boland and Laurie Burdett and Salma Chowdhury and Michael Cullen and Casey Dagnall and Herbert Higson and Hutchinson, {Amy A.} and Kristine Jones and Sally Larson and Kerrie Lashley and Lee, {Hyo Jung} and Wen Luo and Michael Malasky and Michelle Manning and Jason Mitchell and David Roberson and Aurelie Vogt and Mingyi Wang and Meredith Yeager and Xijun Zhang and Caporaso, {Neil E.} and Chanock, {Stephen J.} and Greene, {Mark H.} and Goldin, {Lynn R.} and Goldstein, {Alisa M.} and Allan Hildesheim and Nan Hu and Landi, {Maria Teresa} and Jennifer Loud and Mai, {Phuong L.} and McMaster, {Mary L.} and Lisa Mirabello and Lindsay Morton and Dilys Parry and Anand Pathak and Melissa Rotunno and Stewart, {Douglas R.} and Phil Taylor and Tobias, {Geoffrey S.} and Tucker, {Margaret A.} and Yang, {Xiaohong R.} and Guoqin Yu",
note = "Funding Information: We are grateful to the patients and their families for their valuable contributions to our study. The work of S.A.S., B.J.B, N.G., and B.P.A was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, and by contract HHSN261201100018C with Westat, Inc. The authors would like to thank Lisa Leathwood, RN, Maureen Risch, RN, and Ann Carr, MS, CGC, and other members of the Westat Inherited Bone Marrow Failure Syndromes team for their assistance. S.C.C. acknowledges research support from the Intramural Research Program of NationalHuman Genome Research Institute, National Institutes of Health. Publisher Copyright: {\textcopyright} 2015 Wiley Periodicals, Inc.",
year = "2016",
month = feb,
day = "1",
doi = "10.1002/ajmg.a.37461",
language = "English (US)",
volume = "170",
pages = "386--391",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2",
}