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Familial dysautonomia
Susan A Slaugenhaupt1, James F Gusella
1Harvard Institute of Human Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. slaugenh@helix.mgh.harvard.edu
Current Opinion in Genetics & Development
|June 22, 2002
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.