Novel FANCI mutations in Fanconi anemia with VACTERL association. Issue 2 (21st November 2015)

• Record Type: Journal Article
• Authors: Savage, Sharon A.; Ballew, Bari J.; Giri, Neelam; Chandrasekharappa, Settara C.; Ameziane, Najim; de Winter, Johan; Alter, Blanche P.
• Is Part Of: American journal of medical genetics. Volume 170:Issue 2(2016)
• Page Start: 386
• Page End: 391
• Publication Date: 2015-11-21
• Subjects: Fanconi anemia -- FANCI -- VACTERL association; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37461
• Languages: English
• ISSNs: 1552-4825

Abstract

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. © 2015 Wiley Periodicals, Inc.