Figure 2.

(a) Sanger sequence of GJB1 for the pedigree. (b) Evolutionary conservation of the amino acid affected by missense mutation. The mutant allele is indicated with a box. (c) DHPLC showing a heteroduplex in the patient but a homoduplex in the wild‐type control and healthy controls. (d) A: GFP proteins in HeLa cells transfected with EGFP blank construct; B: GJB1 immunoreactivity in cells transfected with the WT construct formed gap junction (GJ)‐like green fluorescent plaques between the pair of adjacent cells, arrow: gap junction‐like plaque; C: Cells expressing EGFP‐GJB1‐Ile202Asp did not show any GJ‐like plaques. Cell nuclei were labeled with DAPI (blue)