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Table 2 GJB2, GJB6 and mitochondrial hotspot mutations previously screened in the 88 unrelated individuals diagnosed with nonsyndromic prelingual SNHL

From: Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

Sample ID

Previous molecular analysis

GJB2

GJB6

MT-RNR1

Coding regions

del(GJB6-D13S1830)

del(GJB6-D13S1854)

m.1555A>G

m.961delT

2264

c.35delG/wt

ND

ND

2282

c.35delG/p.Arg184Trp

ND

ND

2301

c.35delG/wt

ND

ND

2671

c.35delG/c.35delG

ND

ND

2768

c.35delG/c.35delG

ND

ND

2778

c.35delG/c.35delG

ND

ND

2853

c.35delG/wt

D13S1854/wt

ND

2906

c.35delG/wt

ND

ND

2966

ND

D13S1830/wt

ND

2967

ND

D13S1830/wt

ND

3048

c.35delG/c.35delG

ND

ND

3052

c.35delG/wt

D13S1854

ND

3067

p.Val27Ile/wt

ND

ND

3131

c.35delG/wt

D13S1854

ND

3301

c.35delG/c.35delG

ND

ND

3324

p.Arg127Cys/wt

ND

ND

  1. “/wt” means the presence of a wild type allele, i.e. when mutations were found in heterozygosis
  2. ND no mutation detected