Skip to main content
. 2015 May 18;52(8):523–531. doi: 10.1136/jmedgenet-2014-102961

Figure 2.

Figure 2

The four auditory neuropathy spectrum disorder families segregating AIFM1 mutations. Pedigree, sequence results and typical audiogram of each family are shown. Missense mutations c.1030C>T (p.L344F), c.778A>G (p.T260A), c.1264C>T (p.R422W) and c.1265G>A (p.R422Q) were identified in family 0223 (A), 7170 (B), 2724 (C) and 2423 (D), respectively. These mutations co-segregate with auditory and peripheral sensory neuropathy while carriers have normal hearing and sensory ability. The genotypes at c.1030, c.778, c.1264 and c.1265 for the available members in the corresponding family are given respectively. Whole-exome sequencing was completed on three persons in family 0223 (II: 1, III: 1 and III: 3). Needle electromyography and nerve conduction studies were performed on the individuals from family 7170 (IV: 2), family 0223 (III: 3), family 2724 (II: 4) and family 2423 (III: 1, III: 9 and III: 11). The Mini Mental State Examination was conducted on the three patients in family 2423 (III: 1, III: 9 and III: 11).