Table 2 Prenatal diagnosis and pregnancy outcomes of couples harbored deafness-causing mutations in the same gene
Family | Mutated gene | Genotype of the wife | Genotype of the husband | Genotype of the fetus | Pregnancy outcome |
|---|---|---|---|---|---|
F1 | GJB2 | Heterozygous c. 299_300 del AT | Heterozygous c. 235 del C | Heterozygous c. 235 del C | Normal hearing |
F2 | GJB2 | Heterozygous c. 235 del C | Heterozygous c. 235 del C | Homozygous c. 235 del C | Severe hearing loss |
F3 | GJB2 | Heterozygous c. 299_300 del AT | Heterozygous c. 235 del C | Heterozygous c. 299_300 del AT | Normal hearing |
F4 | GJB2 | Heterozygous c. 235 del C | Heterozygous c. 235 del C | Homozygous c. 235 del C | Termination of pregnancy |
F5 | GJB2 | Heterozygous c. 235 del C | Heterozygous c. 299_300 del AT | Wild type | Normal hearing |
F6 | SLC26A4 | Heterozygous c. 919–2 A > G | Heterozygous c.1548 ins C | Heterozygous c. 919–2 A > G | Normal hearing |
F7 | GJB2 | Heterozygous c. 235 del C | Heterozygous c. 512 ins AACG | Heterozygous c. 235 del C | Normal hearing |
F8 | GJB2 | Heterozygous c. 235 del C | Heterozygous c. 109 G > A | Heterozygous c. 109 G > A | Normal hearing |
F9 | GJB2 | Heterozygous c. 235 del C | Heterozygous c. 109 G > A | Not know (refuse prenatal diagnosis) | Moderate hearing loss |