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Table 3 Clinical data of patients with VUS

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 lossSeveritya Progressionb Vestibularsymptoms Inheritance patternc
5 p.[L940I];[=] II-1 40 y 81 y High-Frequency Moderate Unknown Absent AD
III-1 40 y 47 y Shallow U-shaped Moderate Unknown Absent
III-2 33 y 44 y High-Frequency Mild Unknown Present
6 p.[R1033Q];[=] II-1 46 y 57 y Shallow U-shaped Moderate Unknown Absent AD
7 p.[L1439I];[=] III-1 6 y 16 y Shallow U-shaped Moderate Stable Absent AD
8 p.[L1439I];[=] III-1 16 y 38 y U-shaped Mild Stable Absent AD
9 p.[V1646 M];[=] III-1 8 y 23 y Unknown Moderate Unknown Unknown AD
III-3 3 y 21 y Shallow U-shaped Moderate Stable Absent
10 p.[P1791R];[=] III-2 6y 13 y Shallow U-shaped Mild Unknown Absent AD
  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