Familial dysautonomia

Curr Opin Genet Dev. 2002 Jun;12(3):307-11. doi: 10.1016/s0959-437x(02)00303-9.

Abstract

Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex. The major FD mutation is a splice mutation that results in aberrant tissue-specific mRNA splicing.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Carrier Proteins / genetics*
  • Dysautonomia, Familial / genetics*
  • Humans
  • Macromolecular Substances
  • Organ Specificity
  • RNA Splicing
  • Transcriptional Elongation Factors

Substances

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