Table 4 List of pathogenic variants in EYA4 identified to date and their hearing loss phenotypes
From: Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Exon | Recommended mutation nomenclature* | Amino acid | Variant type | Origin | Age at HL onset | HL degree | Audiogram shape | Variant reported as | Reference |
|---|---|---|---|---|---|---|---|---|---|
8 | c.464delC | p.(Pro155Glnfs*43) | frameshift | Dutch | childhood | moderate | mid- or high-frequency | c.464del | [41] |
8 | c.511 G > C | p.(Gly171Arg) | missense | Chinese | 26–33 years | moderate to severe | gently sloping | c.511 G > C | [42] |
8 | c.544_545insA | p.(Ser182Tyrfs*63) | nonsense | Chinese | 20–40 | moderate to profound | high-frequency to flat | c.544_545insA | [43] |
8 | c.579_580insTACC | p.(Asp194Tyrfs*52) | frameshift | Swedish | 4–40 years | mild to profound | variable | c.579_580insTACC | [44] |
9–10 | c.581_804del | p.(Asp194Glyfs*30) | frameshift | N/A | from schoolage | moderate to profound | mid-frequency | 4846-bp deletion | [31] |
10 | c.804G > C | p.(Gln268His) | missense | Slovak | 10–40 years | mild to severe | gently sloping | c.804G > C | this paper |
11 | c.863 C > A | p.(Ser288*) | nonsense | Korean | N/A | moderate | reverse U-shaped | c.863 C > A | [45] |
11 | c.978C > G | p.(Phe326Leu) | missense | Korean | N/A | moderate | down-sloping | c.909 C > G | [46] |
12 | c1026_1027dupAA | p.(Thr343Lysfs*62) | frameshift | North American Caucasian | 1st-3rd decade | moderate to profound | gently sloping to flat | c.1468insAA | [36] |
12 | c.1048_1049dupAA | p.(Arg352Profs*53) | frameshift | North American Caucasian | 2nd -4th decade | moderate to severe | mid- to high-frequency | c.1490insAA | [7] |
13 | c1115_1118dupTTTG | p.(Trp374Cysfs*6) | frameshift | Hungarian | postlingual | up to profound | variable | c.1558insTTTG | [40] |
13 | c.1154C > T | p.(Ser385Leu) | missense | Italian | postlingual | mild to profound | mid-frequency | c.1154C > T | [47] |
13 | c.1177C > T | p.(Gln393*) | nonsense | Korean | N/A | moderately severe | mid- and high-frequency | c.1177C > T | [48] |
14 | c.1194delT | p.(Met401Trpfs*3) | frameshift | Korean | from 1st decade | moderate | down-sloping | c.1194delT | [34] |
intron 14 | c.1282-12 T > A | splicing effect | splice site | Australian Caucasian | 6 years to 4th decade | mild to profound | mid-frequency to flat | c.1282-12 T > A | [38] |
15 | c. 1301 T > A | p.(Ile434Lys) | missense | Chinese | 8–38 years | mild to severe | mid-frequency to flat | c. 1301 T > A | [49] |
18 | c.1643C > G | p.(Thr548Arg) | missense | Chinese | 17–40 years | mild to profound | variable | c.1643C > G | [50] |
20 | c.1759C > T | p.(Agr587*) | nonsense | Belgian | 6–40 years | mild to moderate | mid-frequency | c.2200C > T | [36] |