Research Article
Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss
Table 1
Genotype of patients with mutations in nuclear genes (GJB2 and GJB6) and in mitochondrial genome.
| | Number of patients | GJB2 | Reference | GJB6 | Reference | mtDNA | Reference |
| | 4 | c.35delG/c.35delG | [9] | — | | — | | | 1 | p.W24X/p.W24X | [30] | — | | — | | | 1 | c.35delG/p.E47X | [9, 31] | — | | — | | | 1 | c.35delG/p.L76P | [9, 32] | — | | — | | | 1 | c.35delG/p.V95M | [9, 33] | — | | — | | | 1 | p.M34T/wt | [30] | — | | — | | | 1 | p.R127QfsX84/p.R127QfsX84 | This study | — | | — | | | 3 | c.35delG/wt | [9] | — | | — | | | 1 | p.P70R/wt | This study | — | | — | | | 2 | c.35delG | [9] | del(GJB6-D13S1830) | [29] | — | | | 1 | — | | — | | m.7445A>G | [34] | | 1 | — | | — | | m.1555A>G | [20] | | 1 | — | | — | | m.3243 A>G | [19] | | 1 | — | | — | | m.5558 A>G | This study |
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