Table 1 Phenotypes and genotypes of the family members
From: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
Family member | Sex | Age (years) | Genotype | Phenotype | |||
|---|---|---|---|---|---|---|---|
GJB2 | ACTG1 | Age of onset (years) | PTA (Left) (dB) | PTA(Right) (dB) | |||
1 (I:1) | M | 69 | N | HT c.638A > G | 15 | 86.25 | 95.00 |
2 (I:2) | F | 68 | HT c.109G > A | N | / | / | / |
3 (II:1) | F | 43 | HT c.109G > A | HT c.638A > G | 17 | >93.75 | >98.75 |
4 (II:2) | M | 44 | HT c.109G > A | N | / | / | / |
5 (II:3) | M | 41 | N | HT c.638A > G | 14 | / | / |
6 (II:4) | F | 40 | N | N | / | / | / |
7 (II:5) | M | 36 | N | HT c.638A > G | 16 | / | / |
8 (II:6) | F | 37 | N | N | / | / | / |
9 (III:1) | F | 21 | HT c.109G > A | HT c.638A > G | 19 | >76.25 | >71.25 |
10 (III:2) | M | 15 | HM c.109A > G | HT c.638A > G | Birth | 56.25 | 61.25 |
11 (III:3) | M | 13 | N | HT c.638A > G | 12 | 51.25 | 23.75 |
12 (III:4) | M | 15 | N | HT c.638A > G | 15 | 37.50 | 35.00 |
13 (III:5) | F | 12 | N | N | / | 10.00 | 11.25 |