Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
Table 2
Clinical features and TMPRSS3 mutation combinations of affected family members identified in the present study and our previous study.
Family number
Mutation 1
Mutation 2
Patient number
Phenotype
Age of onset
Progression
Vertigo
FH1523
c.36delC (p.Pro12fs)
c.916G>A (p.Ala306Thr)
1
Downsloping audiogram configuration with impairment of the low frequencies except 125 Hz at 3 years of age
Newborn
Yes
No
c.316C>T (p.Arg106Cys)
c.916G>A (p.Ala306Thr)
5
Downsloping audiogram configuration with normal threshold of the low frequencies at 50 years of age Flat audiogram configuration with thresholds of about 80 dB at over 60 years of age
20–30 yo
Yes
No
6519
—
c.916G>A (p.Ala306Thr)
1
Moderate slope audiogram configuration with normal threshold of 250 Hz at 3 years of age
3 yo
Yes
No
6932
c.323-6G>A
c.916G>A (p.Ala306Thr)
1
Downsloping audiogram configuration with normal hearing threshold of 125 Hz and 256 Hz at 14 years of age
9 yo
Yes
No
8082
c.809T>A (p.Ile270Asn)
c.916G>A (p.Ala306Thr)
1
Downsloping audiogram configuration with impairment of the low frequencies at a very young age
3 yo
Yes
No
10706
c.1250G>A (p.Gly417Glu)
c.916G>A (p.Ala306Thr)
2
Flat audiogram configuration with thresholds of about 90 dB at 8 years of age
2 yo
Yes
No
8961
c.1204G>A (p.Gly402Arg)
c.916G>A (p.Ala306Thr)
1
Flat audiogram configuration with average PTA is are over 90 dB at 6 yo
2 yo
Yes
No
M234
c.1151T>G (p.Met384Arg)
c.1244T>C (p.Leu415Ser)
2
Flat audiogram configuration with average PTA is over 90 dB at 27 yo Downsloping audiogram configuration with impairment of the low frequencies at 35 yo
