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

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

Family	Genotypes	Case	Age of diagnosis	Age at the latest Examination	Audiometric configuration	Hearing loss Severity^a	Progression^b	Vestibular symptoms	Inheritance pattern^c
1	p.[R1890C];[=]	II-1	9 y	52 y	Flat	Moderate	Unknown	Absent	AD
1	p.[R1890C];[=]	III-2	7 y	23 y	Shallow U-shaped	Moderate	Stable	Absent	AD
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
3	p.[Y1900C];[=]	III-1	2 y	15 y	Shallow U-shaped	Moderate	Stable	Absent	AD
4	p.[S2017P];[=]	I-2	Unknown	43 y	Flat	Mild	Unknown	Absent	AD
4	p.[S2017P];[=]	II-1	8 m	3 y	Shallow U-shaped	Moderate	Unknown	Absent	AD

AD autosomal dominant; AR autosomal recessive
^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)
^bProgressive, deterioration of >15 dB HL in the average over the frequencies of 0.5, 1, and 2 kHz within a 10-year period
^cInheritance pattern estimated from genotypes and phenotypes of family members

ISSN: 1750-1172