American journal of medical genetics. Part A · 2015
Novel FANCI mutations in Fanconi anemia with VACTERL association.
Клинический случайСтатьяПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralНазвание и аннотация: Перевод в очереди
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Savage Sharon A, Ballew Bari J, Giri Neelam, NCI DCEG Cancer Genomics Research Laboratory, Chandrasekharappa Settara C, Ameziane Najim, de Winter Johan, Alter Blanche P, NCI DCEG Cancer Sequencing Working Group
Аннотация
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.