Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.

Abstract excerpt

Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that occurs almost exclusively in the Ashkenazi Jewish (AJ) population. Mutations in the IkappaB kinase complex-associated protein (IKBKAP) gene cause FD. Two IKBKAP mutations, IVS20(+6T --> C) and R696P, have been identified in FD patients of AJ descent. The splice site mutation IVS20(+6T --> C) is responsible for > 99.5% of known AJ...

Topics

• Alternative Splicing
• Carrier Proteins
• DNA
• Dysautonomia, Familial
• Gene Frequency
• Genetic Testing
• Heterozygote
• Jews
• Mutation
• Mutation, Missense
• New York