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.
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
authors.forename: Bari J
authors.initials: BJ
authors.lastname: Ballew
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
authors.forename: Neelam
authors.initials: N
authors.lastname: Giri
authors.affiliation: Cancer Genomics Research Laboratory, Leidos Biomedical Research, NCI-Frederick, Rockville, Maryland.
authors.affiliation: Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland.
authors.forename: Settara C
authors.initials: SC
authors.lastname: Chandrasekharappa
authors.affiliation: Department of Clinical Genetics, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.
authors.forename: Najim
authors.initials: N
authors.lastname: Ameziane
authors.affiliation: Department of Clinical Genetics, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.
authors.forename: Johan
authors.initials: J
authors.lastname: de Winter
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
mesh_terms: D001003:Anal Canal / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004947:Esophagus / Q000002:abnormalities* / Q000473:pathology; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000139:chemically induced / Q000235:genetics* / Q000473:pathology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000139:chemically induced / Q000235:genetics* / Q000473:pathology; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D013131:Spine / Q000002:abnormalities* / Q000473:pathology; D014132:Trachea / Q000002:abnormalities* / Q000473:pathology
chemical_list: C519921:FANCI protein, human; D051856:Fanconi Anemia Complementation Group Proteins
keywords: FANCI; Fanconi anemia; VACTERL association