Figure  1. .

Four missense mutations in SIX5 identified in patients with BOR. A, A158T, A296T, and G365R mutations, present in heterozygous form in a single patient. The T552M mutation was detected in patients A465 and A500. Sequences from the affected individual are shown above sequences from healthy control individuals. Patient identifiers, nucleotide changes, and amino acid changes are shown above the traces. B, SIX5 has an SD and a homeodomain (HD) characteristic of the SIX family of proteins at the N-terminus. An activation domain has also been mapped to the C-terminus.²¹ The A158T mutation is located in the SIX domain; the remaining three mutations are located between the HD and the activation domain.