Genetics Research International / 2011 / Article / Tab 1

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 patientsGJB2ReferenceGJB6ReferencemtDNAReference

4c.35delG/c.35delG[9]
1p.W24X/p.W24X[30]
1c.35delG/p.E47X[9, 31]
1c.35delG/p.L76P[9, 32]
1c.35delG/p.V95M[9, 33]
1p.M34T/wt[30]
1p.R127QfsX84/p.R127QfsX84This study
3c.35delG/wt[9]
1p.P70R/wtThis study
2c.35delG[9]del(GJB6-D13S1830)[29]
1m.7445A>G[34]
1m.1555A>G[20]
1m.3243 A>G[19]
1m.5558 A>GThis study