Fig. 2.

Breakpoints of GJB1 deletions. The proximal and distal sequences refer to the reference sequence and to their position from the centromere. The patient breakpoint sequences (A31, A32, A34, A36, A33) are given with matches to the proximal reference sequence shown in blue and matches to the distal reference sequence shown in red. Boxed sequences (purple) correspond to the breakpoint junction. a Breakpoint sequence of the deletion in sample A31 with 12 bp of microhomology at the junction. b Breakpoint sequences of the deletions in subjects A32, A34, and A36; note that an adenine (A) is inserted at the breakpoint junction. c Breakpoint sequence of the deletion in subject A33. It is challenging to define the breakpoint junction because of the extent of sequence similarity shared between the AluSx sequences at the breakpoint. The breakpoint occurs somewhere within the 70-bp region of similarity in which the patient breakpoint sequence switches from matching the proximal reference sequence to matching the distal reference sequence