Table 2 Mutations of GJB2 Exon 1 in Chinese hearing loss patients with monoallelic pathogenic mutation in GJB2
No. | Age | Family history | Ethnicity | Genotype of the proband (EXON 1/EXON 2) | Genotype of the proband's father | Genotype of the proband's mother | Genotype of the proband's siblings |
|---|---|---|---|---|---|---|---|
1 | 21 | No | Han | IVS1+1G>A/c.235delC | wt/c.235delC | IVS1+1G>A/wt | wt/wt |
2 | 2 | No | Han | IVS1+1G>A/c.235delC | wt/c.235delC | IVS1+1G>A/wt | Â |
3 | 1 | No | Han | IVS1+1G>A,c.11G>A(G4D)/c.9G>A(W3X) | IVS1+1G>A, c.11G>A(G4D)/wt | wt/c.9G>A(W3X) | Â |
4 | 23 | No | Uyghur | IVS1+1G>A/c.35delG | No blood sample | No blood sample | No blood sample |
5 | 8 | No | Han | c.-3175C>T/c.235delC | c.-3175C>T/wt | No blood sample | Â |