Research Article
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population
Table 1
Clinical phenotype of the 20 AIFM1-positive auditory neuropathy cases.
| | Number | Case ID | Gendera | Age of test (years) | Hearing impairment phenotype | PB max (%)c | Tinnitus | Vertigo | Gait instability | Numbness of extremities | Visual impairment | Muscle deformity | Intellectual abilities | MRI of braind | | Age of onset (years) | Hearing loss degree (PTA) (L/R)b | Type of audiometry |
| | 1 | 300005 | F | 17 | 15 | Both mild | Upsloping | NA | + | − | NA | NA | Myopia | NA | − | NA | | 2 | 300145 | F | 21 | 18 | Both moderate | Upsloping | NA | + | − | NA | NA | − | NA | − | − | | 3 | 300158 | M | 14 | 10 | Moderate/moderately severe | Upsloping | NA | − | − | − | − | − | − | − | NA | | 4 | 400352 | M | 20 | 16 | Moderate/moderately severe | Upsloping | NA | NA | NA | NA | NA | Myopia | NA | − | NA | | 5 | 400469 | M | 21 | 14 | Severe/moderate | Other | NA | − | − | NA | NA | − | NA | − | CNH | | 6 | 400738 | M | 28 | 20 | Both moderate | Upsloping | 28/24 | + | NA | + | + | NA | NA | − | − | | 7 | 501418 | M | 21 | 12 | Both mild | Upsloping | 50/84 | + | − | − | − | − | − | − | NA | | 8 | 602409 | F | 17 | 13 | Both mild | Flat/upsloping | NA | − | − | − | − | − | − | − | NA | | 9 | 602416 | F | 6 | 6 | Normal/severe | Flat/downsloping | 96/NA | + | − | + | + | − | NA | − | NA | | 10 | 703306 | M | 27 | 12 | Severe/moderately severe | Upsloping | NA | + | + | + | + | − | NA | − | NA | | 11 | 804755 | F | 28 | 21 | Mild/moderate | Upsloping | 24/32 | + | − | NA | NA | Myopia | NA | − | CNH | | 12 | 1007198 | M | 20 | 10 | Both moderately severe | Upsloping | 0/0 | + | + | − | − | − | − | − | NA | | 13 | 1507328 | M | 28 | 15 | Moderately severe/moderate | Upsloping | 0/0 | + | − | NA | NA | − | NA | − | NA | | 14 | 1507329 | M | 24 | 10 | Both moderately severe | Upsloping | 36/40 | − | − | NA | NA | − | NA | − | − | | 15 | 1507366 | M | 20 | 8 | Normal/mild | Upsloping/flat | NA | − | − | − | − | NA | − | − | NA | | 16 | 1507405 | M | 34 | 17 | Both moderate | Upsloping | 56/52 | + | − | NA | NA | − | NA | − | NA | | 17 | 1507426 | M | 25 | 20 | Moderate/normal | Upsloping/flat | 0/68 | + | − | NA | NA | NA | NA | − | − | | 18 | 1707671 | M | 18 | 14 | Both mild | Upsloping | 8/60 | − | − | NA | NA | Myopia | NA | − | NA | | 19 | 1707676 | M | 21 | 14 | Both mild | Upsloping | 88/96 | + | + | NA | NA | Myopia | NA | − | NA | | 20 | 1707834 | M | 16 | 11 | Both mild | Upsloping | 56/28 | + | − | NA | − | Myopia | NA | − | CNH |
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Note: aF: female; M: male. bPTA: pure tone average; L: left; R: right. cCNH: cochlear nerve hypoplasia. NA: not available; +/−: positive or negative finding.
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