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Table 1 Phenotypes and genotypes of the family members in this study

From: A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2

Family members Age of onset (years) Nucleotide change At the beginning of this study (2014) Follow-up (2016) Tinnitus (No or Yes) Exposure to noise (No or Yes) Ototoxic drugs expose (No or Yes) Vertigo (No or Yes)
PTA DPOAE PTA DPOAE
Right Left Right Left Right Left Right Left
IV:8 25 c.887G > A 90 77.5 Absent at all frequencies Absent at all frequencies 95 90 Absent at all frequencies Absent at all frequencies Yes No No No
V:1 15 c.887G > A 116.25 97.5 Absent at all frequencies Absent at all frequencies 110 93.75 Absent at all frequencies Absent at all frequencies Yes No No No
V:2 - wildtype 15 12.5 Not examined Not examined 20 15 Not examined Not examined No No No No
V:3 - wildtype 13.75 28.75 Not examined Not examined 15 33.75 Normal Normal at 1 and 2 KHz and absent at other frequencies No Yes No No
V:5 30 c.887G > A 58.75 55 Absent at all frequencies Absent at all frequencies 50 48.75 Absent at all frequencies Absent at all frequencies Yes No No No
V:7 - wildtype 20 17.5 Not examined Not examined 15 18.75 Normal Normal No No No No
VI:1 18 c.887G > A 77.5 61.25 Absent at all frequencies Absent at all frequencies 88.75 103.8 Absent at all frequencies Absent at all frequencies Yes No No No
VI:2 21 c.887G > A 40 42.5 Not examined Not examined 42.5 45 Not examined Not examined Yes No No No