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Table 1 Phenotypes and genotypes of the Chinese DFNA family

From: A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness

Member Gender Age (years) Genotype Phenotype
Exon8 (c.544_545insA) Protein (p.F221X) Age of Onset (years) PTA (Left) (dB) PTA (Right) (dB)
II-6 F 74 + + 20 profound 77.5
III-1 M 68 + + 40 83.75 80
III-3 M 61 + + 35 73.75 77.5
III-5 M 56 + + 35 65 71.25
III-8 F 52 -- N N
III-11 F 50 + + 30 56.25 57.5
III-13 M 47 + + 30 52.5 52.5
III-15 F 34 -- N N
IV-1 M 36 + + 32 36.25 28.75
IV-3 M 31 -- N N
IV-5 F 39 -- N N
IV-6 M 30 -- N N
IV-7 M 25 -- N N
IV-9 F 26 -- N N
IV-10 M 22 + + 22 40 32.5
  1. (F: female, M:male, +: mutation, —: no mutation, N:normal).