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Table 3 Overview of KCNQ4 mutations described in DFNA2

From: A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2

Mutation Protein change Exon Origin Age of onset Sub-domain Reference
c.211delC p.Q71fs 1 Japan 8–50 N-term cyto [17, 18]
c.211del13 p.Q71fs 1 Belgian <10 N-term cyto [15]
c.229_230insGC p.H77fs 1 Japan 27 N-term cyto [18]
c.546C > G p.F182L 4 Japan -- S3 trans [18, 19]
c.664_681del18 p.G215_220del6 4 Korea earliest 4 S4–S5 linker [14]
c.689 T > A p.V230E 4 Japan 3–40 S4–S5 linker [18]
c.725G > A p.W241X 5 America -- S5 trans [16]
c.778G > A p.E260K 5 America -- S5 trans [16]
c.785A > T p.D262V 5 America -- S5 trans [16]
c.806_808delCCT p.S269del 5 Canada <10 S5–S6 linker [11]
c.821 T > A p.L274H 5 Neth -- PR(P) [23]
c.823 T > C p.W275R 5 China 2–30 PR(P) [24]
c.827G > C p.W276S 5 Japan,Dutch <10 PR(P) [12, 15, 21, 22]
c.842 T > C p.L281S 6 America -- PR(P) [20]
c.853G > T p.G285C 6 America <10 PR(P) [15]
c.853G > A p.G285S 6 French,China 6–30 PR(P) [4, 24]
c.859G > C p.G287R 6 America 1–21 PR(P) [13]
c.871C > T p.P291S 6 Japan 20 PR(P) [18]
c.872C > T p.P291L 6 Japan 17 PR(P) [18]
c.886G > A p.296S 6 Spanish 9–50 PR [7]
c.887G > A p.G296D 6 China 15–25 PR This study
c.891G > T p.R297S 6 Japan 5,39 S6 trans [18]
c.961G > A p.G321S 7 Dutch <10 S6 trans [15]
c.1044_1051del8 p.A349Pfs 8 Japan <10 S6-B segment linker [25]
  1. Abbreviations: cyto cytoplasmic, trans transmembrane, PR Pore region, (P) P-loop