Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.

Abstract excerpt

Familial Dysautonomia (FD) is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40. The disease is characterized by abnormal development and progressive degeneration of the sensory and autonomic nervous system. A single base pair substitution in intron 20 of the Ikbkap gene accounts for 98% of FD cases, and results in the...

Topics

• Animals
• Cardiovascular Abnormalities
• Carrier Proteins
• Developmental Disabilities
• Dysautonomia, Familial
• Exons
• Female
• Fetal Death
• Intracellular Signaling Peptides and Proteins
• Mice
• Mutation
• Pregnancy
• Pregnancy Complications