<unk>  is the result of mutations in IKBKAP gene on chromosome 9, which encodes for the IKAP protein (IkB kinase complex-associated protein). There have been three mutations in IKBKAP identified in individuals with<unk> . The most common<unk> -causing mutation occurs in intron 20 of the donor gene. Conversion of T→C in intron 20 of the donor gene resulted in shift splicing that generates an IKAP transcript lacking exon 20. Translation of this mRNA results in a truncated protein lacking all of the amino acids encoded by exons 20–37. Another less common mutation is a G→C conversion resulting in one amino acid mutation in 696, where Proline substitutes normal Arginine. The decreased amount of functional IKAP protein in cells causes<unk> .
Familial dysautonomia
Bartter syndrome
Arts syndrome
Blind loop syndrome
Andersen–Tawil syndrome
Crandall syndrome
Barakat syndrome
Eagle syndrome