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Table 1 DFNB1 genotypes identified in 30 patients with deafness

From: Molecular epidemiology of DFNB1 deafness in France

Number of families

Genotype

Degree of deafness

Mode of inheritance**

10

35delG/35delG

10 profound

5 SC; 4 AR; 1cAR; 1un

2

35delG/E47X

2 profound

2AR

2

35delG/312del14

1 profound, 1 moderate

1AR

1

35delG/N206S

1 moderate

1AR

1

35delG/R184P

1 profound

1 SC

1

35delG/W24X

1 profound

1AR

1

35delG/C64X*

1 profound

1 SC

1

35delG/delE120

1 moderate

1AR

1

35delG/Q57X

1 profound

1SC

1

35delG/R143W

1 profound

1SC

1

35delG/W44X

1 profound

1SC

1

290insA/IVS1+1G>A

1 profound

1AR

3

35delG/Δ(GJB6/D13S1830)

3 profound

1 SC; 1AR; 1un

2

Δ(GJB6/D13S1830)/Δ(GJB6/D13S1830)

2 profound

1 SC; 1 AR

1

E47X/Δ(GJB6/D13S1830)

1 profound

1un

1

235delC/Δ(GJB6/D13S1830)

1 profound

1 AR

  1. top: genotypes of the 23 familieswith GJB2 biallelic mutations; bottom: 7 families with DFNB1 mutations All cases presented bilateral, congenital hearing loss with no evidence of progression * novel mutation ** SC: Sporadic case; AR: autosomal recessive; cAR: autosomal recessive with consanguinity; un: unknown