Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population

Table 3

Overview of TMPRSS3 mutations described in DFNA8/10, including those identified in the present study.

Mutation	Protein change	Exon	Domain	Origin	Mutation classification	Reference
c.323-6G>A		Intron4	LDLRA	Chinese; Korean	Mild	Present study; Ahmed et al., 2004; Weegerink et al., 2011
c.809T>A	p.Ile270Asn	E9	Serine protease	Chinese	Severe	Present study
c.916G>A	p.Ala306Thr	E9	Serine protease	Chinese; German; Korean; Dutch	Severe	Present study; Gao et al., 2017; Chung et al., 2014; Lee et al., 2013; Weegerink et al., 2011
c.1151T>G	p.Met384Arg	E11	Serine protease	Chinese	Severe	Present study
c.1204G>A	p.Gly402Arg	E12	Serine protease	Chinese	Severe	Present study
c.1244T>C	p.Leu415Ser	E12	Serine protease	Chinese	Severe	Present study
c.1250G>A	p.Gly417Glu	E12	Serine protease	Chinese	Severe	Present study
c.36delC	p.Pro12fs	E2	TM	Chinese	Severe	Gao et al., 2017
c.36dupC	p.Phe13fs	E2	TM	Turkish	N/A	Diaz-Horta et al., 2011
c.208delC	p.Thr70fs	E4	LDLRA	Pakistani; Spanish; Greek; Newfoundlander	Severe	Ahmed et al., 2004; Weegerink et al., 2011; Battelino et al., 2016
c.268G>A	p.Ala90Thr	E4	LDLRA	UK Caucasian; Moroccan	N/A	Charif et al., 2012
c.296C>A	p.Ser99X	E4	LDLRA	Chinese	Severe	Gu et al., 2014
c.308A>G	p.Asp103Gly	E4	LDLRA	Greek	N/A	Wattenhofer et al., 2002
c.310G>A	p.Glu104Lys	E4	LDLRA	Pakistani	N/A	Lee et al., 2012
c.310G>T	p.Glu104X	E4	LDLRA	Pakistani	N/A	Lee et al., 2012
c.316C>T	p.Arg106Cys	E4	LDLRA	Chinese; Japanese	Mild	Gao et al., 2017; Miyagawa et al., 2013
c.325C>T	p.Arg109Trp	E5	SRCR	Pakistani; Korean	Severe	Ahmed et al., 2004; Ben-Yosef et al., 2001
c.326G>A	p.Arg109Gln	E5	SRCR	Chinese	Mild	Gu et al., 2014
c.413C>G	p.Ala138Glu	E5	SRCR	British; Korean	Mild	Weegerink et al., 2011
c.581G>T	p.Cys194Phe	E6	SRCR	Pakistani	Severe	Ahmed et al., 2004; Ben-Yosef et al., 2001
c.595G>A	p.Val199Met	E6	SRCR	Dutch; Korean	Severe	Weegerink et al., 2011
c.607C>T	p.Gln203X	E6	SRCR	Japanese	Severe	Miyagawa et al., 2013
c.646C>T	p.Arg216Cys	E8	SRCR	German	Mild	Elbracht et al., 2007
c.647G>T	p.Arg216Leu	E8	SRCR	Turkish	Severe	Wattenhofer et al., 2005
c.726C>G	p.Cys242Trp	E8	SRCR	Pakistani	Severe	Shafique et al., 2014
c.743C>T	p.Thr248Met	E8	SRCR	Korean	Mild	Chung et al., 2014
c.753G>C	p.Trp251Cys	E8	SRCR	Tunisian	Severe	Masmoudi et al., 2001
c.767C>T	p.Arg256Val	E8	SRCR	Pakistani	N/A	Lee et al., 2012
c.782+8insT		Intron8	SRCR	Newfoundlander	Severe	Ahmed et al., 2004
c.988delA	p.Glu330fs	E10	Serine protease	Pakistani	Severe	Walsh et al., 2005
c.1019C>G	p.Thr340Arg	E10	Serine protease	Italian	Severe	Vozzi et al., 2014
c.1159G>A	p.Ala387Thr	E11	Serine protease	Japanese	Mild	Miyagawa et al., 2013
c.1180_1187del8ins68		E11	Serine protease	Palestinian	Severe	Scott et al., 2001
c.1192C>T	p.Gln398X	E12	Serine protease	Turkish	Severe	Wattenhofer et al., 2005
c.1211C>T	p.Pro404Leu	E12	Serine protease	Tunisian	Severe	Wattenhofer et al., 2005; Masmoudi et al., 2001
c.1219T>C	p.Cys407Arg	E12	Serine protease	Pakistani	Severe	Ahmed et al., 2004; Ben-Yosef et al., 2001; Lee et al., 2012
c.1273T>C	p.Cys425Arg	E12	Serine protease	Pakistani	N/A	Lee et al., 2012
c.1276G>A	p.Ala426Thr	E12	Serine protease	Dutch	Mild	Weegerink et al., 2011
c.1291C>T	p.Pro431Ser	E12	Serine protease	Italian	Severe	Vozzi et al., 2014

N/A: not available.