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The Fanconi anemia-associated polypeptide, complementation group B gene (FANCB OMIM 300515) encodes a protein involved in the Fanconi anemia DNA damage response pathway. The FANCB gene is located at Xp22.2 and contains 10 exons. Small deletions and insertions, as well as gross deletions, have been observed in FANCB; they are associated with Fanconi anemia (Meetei AR et al. Nat Genet. 2004;36:1219-1224). Moreover, a splicing mutation has been reported in patients presenting as X-linked VACTERL with hydrocephalus syndrome (Holden S et al. J Med Genet 2006;43:750-754).