Neoplasia in familial dysautonomia: a 20-year review in a young patient population

J Pediatr. 2009 Dec;155(6):934-6. doi: 10.1016/j.jpeds.2009.04.055.

Abstract

We reviewed the charts of all patients with familial dysautonomia (n = 631) and found that 2% had been diagnosed with tumors. We hypothesize that the IkappaB Kinase-associated protein gene mutation, which causes aberrant RNA splicing in patients with familial dysautonomia, may contribute to tumorigenesis in this genetically homogenous patient population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Carrier Proteins / genetics
  • Child
  • Cohort Studies
  • Databases, Factual
  • Dysautonomia, Familial / genetics
  • Dysautonomia, Familial / mortality
  • Dysautonomia, Familial / pathology*
  • Female
  • Humans
  • Israel
  • Jews / genetics
  • Male
  • Middle Aged
  • Neoplastic Syndromes, Hereditary / epidemiology*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology*
  • Retrospective Studies
  • Transcriptional Elongation Factors
  • United States
  • Young Adult

Substances

  • Carrier Proteins
  • Elp1 protein, human
  • Transcriptional Elongation Factors