Fig. 5

Hearing loss and middle ear defects in patients heterozygous for JAG1 mutations and/or diagnosed with AGS. (a) The ratio of types of hearing loss for the right and left ears were calculated based on the 44 subjects tested. The degrees of hearing loss encompassed in each type of hearing loss were also analyzed. Table S1 lists the degrees of hearing loss as a range indicating the loss at its best frequency and worst frequency. The categorical analyses illustrated by the pie charts have taken into account only the loss at the worst frequency. (b) CT scans of the temporal bone in the axial plane from a control 69-year-old male without AGS and subject 5 who is heterozygous for a JAG1 loss-of-function mutation. Magnified areas of the dashed box regions and accompanying diagrams are shown below. Compared to the right stapes (orange) from the control subject, the right and left stapes of subject 5 appear as a single rod (i.e. columellar). Adjacent sections showed relatively normal articulation of the stapes with the incus. For better comparison, the orientation of the left stapes is flipped horizontally in the magnified view. (c) Audiogram of subject 5 (see Table 2) indicates mild to profound mixed hearing loss in the left ear and normal to mild sensorineural hearing loss with a potential high-frequency conductive component in the right ear. (d) Compared to a control 69-year-old male without AGS, CT scans of the temporal bone in the coronal plane show inappropriate ossification (red) of the oval window in the left ear of subject 1. The control right ear is flipped horizontally in the magnified area and accompanying diagram.