Table 2 Clinical diagnosis of 59 genetically diagnosed patients based on genetic testing results

Nonsyndromic hearing loss

48

81

 Deafness, autosomal recessive 1A

220290

GJB2

AR

33

56

 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

600791

SLC26A4

AR

10

17

 Deafness, autosomal recessive 7

600791

TMC1

AR

2

3

 Deafness, autosomal recessive 3

600316

MYO15A

AR

1

2

 Deafness, autosomal recessive 16

603720

STRC

AR

1

2

 Deafness, autosomal recessive 12

601386

CDH23

AR

1

2

Syndromic hearing loss

5

8

 Smith-Magenis Syndrome

182290

Multiple genes

AD

1

2

 Menke-Hennekam syndrome

180849

CREBBP

AD

1

2

 Usher syndrome type 1B

600060

MYO7A

AR

2

3

 Branchiootic syndrome

602588

EYA1

AD

1

2

Nonsyndromic hearing loss mimics

6

10

 Waardenburg syndrome, type 2A

193510

MITF

AD

3

5

 Keratitis-ichthyosis-deafness syndrome

148210

GJB2

AD

1

2

 Muenke syndrome

602849

FGFR3

AD

1

2

 Jervell and Lange-Nielsen syndrome

220400

KCNQ1

AR

1

2

Total

–

59

100