Neoplasia in familial dysautonomia: a 20-year review in a young patient population.
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.
Gold-von Simson
Gabrielle
G
New York University School of Medicine, Department of Pediatrics, New York, NY 10016, USA. gabrielle.gold-vonsimson@nyumc.org
Romanos-Sirakis
Eleny
E
Maayan
Channa
C
Axelrod
Felicia B
FB
D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D015331:Cohort Studies; D016208:Databases, Factual; D004402:Dysautonomia, Familial / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D005260:Female; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D012189:Retrospective Studies; D035602:Transcriptional Elongation Factors; D014481:United States; D055815:Young Adult
D002352:Carrier Proteins; C114720:Elp1 protein, human; D035602:Transcriptional Elongation Factors