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Table 3 Summary of all known EYA4 variants and their hearing loss phenotypes

From: Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

Variant type Nucleotide Change Exon/Intron Amino Acid Change Origin Age at HL on set HL degree Audiogram profile References
Splicing c.84-2A > G Intron 3   Chinese
Indian
N/A N/A N/A Chen et al. 2016 [36]
Panigrahi et al. [37]
Missense c.152C > T Exon 4 p.Ser51Phe America N/A N/A N/A Sloan-Heggen et al. [38]
Nonsense c.160G > T Exon 4 p.Glu54* Spanish 42 years Mild MF/flat Morín et al. [13]
Frameshift c.222_223del Exon 5 p.Val75Phefs*32 Japanese 61 years Mild to moderate HF/LF Shinagawa et al. [9]
Frameshift c.464delC Exon 8 p.Pro155Glnfs*43 Swedish Dutch N.A Childhood N.A
Moderate
N.A
MF/HF
Neveling et al. [39]
Van Beelen et al. [40]
Frameshift c.498del Exon 8 p.Thr167Leufs*31 Japanese 13 years Mild LF Shinagawa et al. [9]
Missense c.511G > C Exon 8 p.Gly171Arg Chinese 6–50 years Mild to severe HF/flat Liu [15]
Nonsense c.517C > T Exon 8 p.Gln173* Japanese 48 years Moderate Flat Shinagawa et al. [9]
Missense c.543C > G Exon 8 p.Tyr181Ter Chinese Second to the fourth decade Severe to profound Flat Mi et al. [32]
Frameshift c.579_580insTACC Exon 8 p.Asp194Tyrfs*52 Swedish 4–40 years Mild to profound N/A Frykholm et al. [41]
  c.580 + 1G > A Intron 8   Japanese 45 years Moderate Flat Shinagawa et al. [9]
Frameshift c.614dupA Exon 9 p.Glu205Argfs*40 Chinese 20–40 years Moderate to profound HF/flat Huang et al. [42]
Frameshift c.781del Exon 10 p.Thr261Argfs*34 Spanish 26–44 years Mild to moderate Gently downsloping Morín et al. [13]
Missense c.804G > C Exon 10 p.Gln268His Slovak 10–40 years Moderate Gently downsloping Varga et al. [43]
Nonsense c.863C > A Exon 11 p.Ser288* Korean Korean N.A
N.A
Moderate
Moderate to severe
Reverse U-shaped
Flat
Baek et al. [44]
Kim et al. [10]
Missense c.866C > T Exon 11 p.Thr289Met American N.A N.A N.A Miszalski-Jamka et al. [45]
Frameshift c.910del Exon 11 p.Ser305Leufs*15 Japanese 30 years Severe Flat Shinagawa et al. [9]
Missense c. 978C > G Exon 12 p.Phe326Leu Korean N.A Moderate Down sloping Choi et al. [46]
Nonsense c.988C > T Exon 12 p.Gln330* Japanese 16 years Moderate Flat Shinagawa et al. [9]
Frameshift c.1026_1027dupAA Exon 12 p.Thr343Lysfs*62 American N.A Moderate to profound Flat/Gently sloping Wayne et al. [12]
Frameshift c.1048_1049dupAA Exon 12 p.Arg352Profs*53 American N.A Moderate to severe MF/HF Makishima et al. [47]
Missense c.1078C > A Exon 12 p.Pro360Thr Spanish 44 years Mild to moderate Gently downsloping Morín et al. [13]
Missense c.1107G > T Exon 12 p.Glu369Asp Spanish 10–11 years Moderate to severe Gently downsloping Morín et al. [13]
Missense c.1109G > A Exon 13 p.Arg370His Philippines N.A N.A N.A Truong et al. 2019 [48]
Missense c.1109G > C Exon 13 p.Arg370Pro Japanese 30 years Mild to moderate MF Shinagawa et al. [9]
Missense c.1109G > C Exon 13 p.Val371Met Belgium N.A N.A N.A Sommen et al. [49]
Frameshift c.1115_1118dup TTGT Exon 13 p.Trp374Cysfs*6 Hungarian N.A N.A N.A Pfister et al. [50]
Missense c.1122G > T Exon 13 p.Trp374Cys Australian 10–25 years Mild to severe Gently downsloping Morín et al. [13]
Missense c.1154C > T Exon 13 p.Ser385Leu Italian N.A Mild to profound MF Cesca et al. [51]
Nonsense c.1177C > T Exon 13 p.Gln393* Korean
Japanese
N.A
26 years
moderate HF
Flat
Kim [10]
Shinagawa et al. [9]
Frameshift c.1194del Exon 14 p.Met401Trpfs*3 Korean N.A Moderate Down sloping Choi et al. [46]
Missense c.1216G > C Exon 14 p.Gly406Arg Japanese 5 years Moderate Flat Shinagawa et al. [9]
Missense c.1223G > A Exon 14 p.Arg408His America N.A N.A N.A Miszalski-Jamka et al. [45]
Missense c.1281G > A Exon 14 p.Glu427Glu Spanish 26 years Moderate to profound Flat Morín et al. [13]
Splicing c.1282-12T > A Intron 14   Australian N.A Mild to profound Flat Hildebrand et al. [52]
Splicing c.1282-1G > A Intron 14   Spanish 12 years Mild to moderate MF/Flat Morín et al. [13]
Missense c.1301T > A Exon 15 p.Ile434Lys Chinese 8–38 years Mild to severe MF/flat Tan et al. [53]
Splicing c.1341-19T > A Intron 15   Germany N.A N.A N.A Vona et al. [54]
Nonsense c.1601C > G Exon 17 p.Ser534* Spanish 3–16 years Moderate to severe MF/Flat Morín et al. [13]
Missense c.1643C > G Exon 18 p.Thr548Arg Chinese 17–40 years Mild to profound N.A Sun et al. [11]
Missense c.1663G > C Exon 18 p.Ala555Pro Japanese 25 years Moderate N.A Shinagawa et al. [9]
Splicing c.1739-1G > A Intron 18   America 50 years N.A N.A Cirino et al. [55]
Nonsense c.1759C > T Exon 19 p.Arg587* Belgian 6–40 years Mild to moderate N.A Wayne et al. [12]
Frameshift c.1790del Exon 19 p.Val597Glyfs*4 Japanese 35 years Moderate Flat Iwasa et al. [56]
Missense c.1810G > T Exon 19 p.Gly604Cys Swedish Dutch N.A N.A N.A Neveling et al. [39]
Van Beelen et al. [40]
Nonsense c.1834A > T Exon 19 p.Lys612* Chinese 27 years Moderate Gently downsloping Hu et al. [16]
Missense c.1855T > G Exon 20 p.Trp619Gly Chinese N.A N.A N.A Xiao et al. [57]
CNV Deletion 7689 bp
(Ex7 to Ex11)
   Japanese 25 years Moderate to severe LF/HF Shinagawa et al. [9]
CNV Deletion 9.5 Mb
(Ex4 to Ex 20)
   Japanese 13 years Severe LF/HF Shinagawa et al. [9]
CNV Deletion 2747 bp
(Ex15 to Ex17)
   Spanish 8 years Moderate Flat Morín et al. [13]
CNV Deletion 9 Mb at 6q23.1–24.1
(Ex4–20)
  p.Asp194Glyfs*30 Polish N.A N.A N.A Dutrannoy et al. [30]
CNV Deletion 4846 pb incl. intron 9, exon 10 and partial intron 10 c.581_804del
(In9, Ex10, part of In10)
    N.A N.A N.A Schönberger et al. [34]
CNV Deletion 10.4 Mb promoter and exon 1,2 (Ex1–2)    Japanese 20-month-old Moderate to severe MF/flat Abe et al. [31]
CNV Deletion 3.7 MB in 6q23.1q23.2
(Ex1–20)
   Italian 12 years N.A N.A Gana et al. [58]
CNV Deletion 12,835 bp (Ex6–10)    Japanese 23 years Mild to sereve LF/HF/Flat Ishino et al. [14]
CNV Deletion 17.4 kb and 10 bp insertion (Ex8–11)    Chinese 26–42 years Moderate–severe Flat This work