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Table 2 GJB2 genotypes with unknown consequences in 16 families

From: Molecular epidemiology of DFNB1 deafness in France

Number of families

Genotype**

Hearing loss****

Mode of inheritance

3

35delG/+

1P progressive; 1M; 1U

1SC,1AR, 1un

2

R127H/M34T

2P

1AR,1SC

1

R127H/W24X

P to M ***

1AR

1

M34T/V37I

1 mild

1SC

2

M34T/+

1 mild, 1M

2AD

1

(IVS1-12C>T)2*/-34T/G*

P

un

2

IVS1-12C>T*/+

1P progressive, 1P

1SC, 1un

2

V37I/+

1M, 1P

1AR, 1un

1

V153I/+

M

1SC

1

G160S/+

P

1SC

  1. * novel sequence variant ** + designates the wild type allele *** variable phenotype within the family **** P: profound; M: moderate; U: unilateral; un: unknown