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

Table 3 Clinical data of patients with VUS

Family	Genotypes	Case	Age of diagnosis	Age at the latest Examination	Audiometric configuration	Hearing lossSeverity^a	Progression^b	Vestibularsymptoms	Inheritance pattern^c
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
9	p.[V1646 M];[=]	III-3	3 y	21 y	Shallow U-shaped	Moderate	Stable	Absent	AD
10	p.[P1791R];[=]	III-2	6y	13 y	Shallow U-shaped	Mild	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