Table 2 Summary of all reported GSDME variants leading to hearing loss
Variant DNA | Chromosomal location | Location | Effect of variant | Age of onset (year) | Hearing impairment | Ethnicity | References |
|---|---|---|---|---|---|---|---|
c.990 + 503_990 + 1691del1189ins132 | chr7:24,746,055-24747243delins | Intron 7 | Skipping of exon 8 | 5–15 | High-all frequency | Dutch | Van Laer et al. [7] |
c.991-15_991-13delTTC | chr7:24,746,007–24,746,010 | Intron 7 | Skipping of exon 8 | 7–30 | High frequency | Chinese | Yu et al. [29] |
c.991–6 C > G | chr7:24,746,001 | Intron 7 | Skipping of exon 8 | 0–40 | High-all frequency | Dutch | Bischoff et al. [30] |
c.991–3 C > A | chr7:24,745,998 | Intron 7 | Skipping of exon 8 | 20–39 | High-all frequency | Chinese | Wang et al. [31] |
c.991–2 A > G | chr7:24,745,997 | Intron 7 | Skipping of exon 8 | 8–18 | High frequency | Chinese | Chai et al. [32] |
10 | High-all frequency | European | Booth et al. [33] | ||||
c.991–1 G > C | chr7:24,745,996 | Intron 7 | Skipping of exon 8 | 10–40 | High-all frequency | Chinese | Yuan et al. [34] |
c.1102 C > G | chr7:24,745,884 | Exon 8 | Skipping of exon 8 | 10 | High frequency | European | Booth et al. [33] |
c.1154 C > T | chr7:24,745,832 | Exon 8 | Skipping of exon 8 | 10 | High frequency | Iranian | Booth et al. [33] |
c.1158_1161delCTAC | chr7:24,745,824–24,745,828 | Exon 8 | Skipping of exon 8 | / | / | Chinese, Italians | |
c.1183 G > A | chr7:24,745,803 | Exon 8 | Skipping of exon 8 | 10 | High frequency | East Asian | Booth et al. [33] |
c.1183 G > C | chr7:24,745,803 | Exon 8 | Skipping of exon 8 | / | / | Chinese | Chen et al. [37] |
c.1183 + 1 delG | chr7:24,745,801–24,745,802 | Intron 8 | Skipping of exon 8 | 8–30 | High-all frequency | Chinese | Li-Yang et al. [38] |
c.1183 + 1 G > C | chr7:24,745,802 | Intron 8 | Skipping of exon 8 | 18–25 | High-all frequency | Chinese | This study |
c.1183 + 4 A > G | chr7:24,745,799 | Intron 8 | Skipping of exon 8 | 11–50 | High-all frequency | Chinese | Cheng et al. [39] |