Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature

Marianna Shvartsbeyn, Amy Rapkiewicz, Felicia Axelrod, Horacio Kaufmann


An increased incidence of neoplasia was recently reported in patients with familial dysautonomia. This suggests that, in addition to its role in neuronal development, the IKBKAP gene may also influence DNA repair. Here we report the case of a 28-year-old male with familial dysautonomia who was found to have neoplastic lesions detected post mortem as incidental findings. This case indicates that the prevalence of tumorgenesis within this population may be underestimated.



Familial dysautonomia; IKBKAP; Tumorgenesis

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