Figure 1

Pedigree of a family carrying the m.904C > T variant. (A) Pedigree of a family carrying the homoplasmic m.904C > T variant. Individuals with hearing loss are indicated by filled symbols. The arrow indicates the proband. (B) Audiogram of the proband of m.904C > T. Open circles with the line indicate the air conduction thresholds of the right ear; the X's with dotted line indicate the air conduction thresholds of the left ear; [, bone conduction thresholds of the right ear; ], bone conduction thresholds of the left ear. Arrows indicate the scale-out level of hearing loss. (C, D) Secondary structures of wild-type 12S rRNA (C) and 12S rRNA with the m.904C > T (D) predicted by Centroid Fold. To the right is shown an enlargement of the region of predicted secondary structures surrounding nucleotide positions including 904 and 1005 (bold arrows with red circles). Positions 862, 917, 1021, and 1030 are marked by dashed arrows with black circles for easy comparison of the structural changes. Each predicted base pair is indicated by a gradation of color (red to blue) corresponding to the base-pairing probability from 1 (red) to 0 (blue) according to Centroid Fold.