Genetics of hearing loss: focus on DFNA2

Figures & data

Table 1 GJB3 mutations

Family	Mutation	Amino acid change	Amino acid position	Reference
Chinese	Missense	547G → A	183	Xia et al^Citation3
Chinese	Nonsense	538C → T	180	Xia et al^Citation3

Table 2 Known KCNQ4 mutations

Family	Mutation	Protein domain	Exon	Reference
Dutch I	W276S	Pore region	5	Coucke et al^Citation20
Dutch II	G321S	S6 transmembrane domain	7	Coucke et al^Citation20
Dutch III	L274H	Pore region	5	Van Hauwe et al^Citation18
Dutch IV	W276S	Pore region	5	Van Camp et al^Citation24
Dutch V	W276S	Pore region	5	Topsakal et al^Citation23
Belgian*	Fs71X134	N-terminal cytoplasmic region	5	Coucke et al^Citation20
Japanese I	W276S	Pore region	5	Akita et al^Citation25
Japanese II	W276S	Pore region	5	Van Camp et al^Citation24
Japanese III*	Fs71X138	N-terminal cytoplasmic region	1	Kamada et al^Citation30
American I	G285C	Pore region	6	Coucke et al^Citation20
American II	L281S	Pore region	6	Talebizadeh et al^Citation27
French	G285S	Pore region	6	Kubisch et al^Citation4
Taiwanese	F182L	S3 Transmembrane domain	4	Su et al^Citation29
Spanish	G296S	Pore region	6	Mencia et al^Citation21
American III	G287A	Pore region	6	Arnett et al^Citation22
Korean	c664_del18	S4–S5 intramembrane loop	4	Baek et al^Citation17
American IV	E260K	S5 transmembrane domain	5	Hildebrand et al^Citation31
American V	D262V	S5 transmembrane domain	5	Hildebrand et al^Citation31
American VI*	W241X	S5 transmembrane domain	5	Hildebrand et al^Citation31

Note:

* Nonsense mutations resulting in truncated peptide.

Figure 1 Structure of KCNQ4.

Notes: Schematic representation of KCNQ4 demonstrating its six transmembrane domains, pore region, and long C-terminus. The labeled boxes represent all previously reported mutations in DFNA2 pedigrees. The majority of mutations cluster around the P-loop.

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