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Table 2 Clinical data of patients with pathogenic or possibly pathogenic variants

From: Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

Family Genotypes Case Age of diagnosis Age at the latest Examination Audiometric configuration Hearing loss Severitya Progressionb Vestibular symptoms Inheritance patternc
1 p.[R1890C];[=] II-1 9 y 52 y Flat Moderate Unknown Absent AD
III-2 7 y 23 y Shallow U-shaped Moderate Stable Absent
2 c.[65-3C > T];p.[C633*] II-1 4 y 17 y Shallow U-shaped Moderate Stable Absent AR
3 p.[Y1900C];[=] II-2 9 y 37 y U-shaped Moderate Unknown Absent AD
III-1 2 y 15 y Shallow U-shaped Moderate Stable Absent
4 p.[S2017P];[=] I-2 Unknown 43 y Flat Mild Unknown Absent AD
II-1 8 m 3 y Shallow U-shaped Moderate Unknown Absent
  1. AD autosomal dominant; AR autosomal recessive
  2. aMild, 20–40 dB HL; moderate, 41–70 dB HL; severe, 71–95 dB HL; profound, >95 dB HL (better hearing ear, averaged over 0.5, 1, 2, and 4 kHz)
  3. bProgressive, deterioration of >15 dB HL in the average over the frequencies of 0.5, 1, and 2 kHz within a 10-year period
  4. cInheritance pattern estimated from genotypes and phenotypes of family members