Evidence for inheritance in patients with VACTERL association

Hum Genet. 2010 Jun;127(6):731-3. doi: 10.1007/s00439-010-0814-7. Epub 2010 Apr 6.

Abstract

VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Abnormalities, Multiple / epidemiology*
  • Abnormalities, Multiple / genetics*
  • Family
  • Female
  • Genetic Testing
  • Heredity*
  • Humans
  • Male
  • Prevalence