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Table 2 Genotypes of SLC26A4 gene-related hearing impairment in Yunnan

From: Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China

Allele1

  

Allele2

   

Nucleotide change

Consequence or amino change

Category

Nucleotide change

Consequence or amino change

Category

Number of patients

c.IVS7-2A > G

aberrant splicing

Pathogenic

c.IVS7-2A > G

aberrant splicing

Pathogenic

4

EVA

c.IVS7-2A > G

aberrant splicing

Pathogenic

c.IVS7-2A > G

aberrant splicing

Pathogenic

1

nl

c.IVS7-2A > G

aberrant splicing

Pathogenic

c.754 T > C

S252P

Pathogenic

1

ND

c.IVS7-2A > G

aberrant splicing

Pathogenic

c.1548insC

FX517,526X

Pathogenic

1

EVA

c.2168A > G

H723R

Pathogenic

c.1079 T > C

A360V

Pathogenic

1

EVA

c.2168A > G

H723R

Pathogenic

c.84C > A

S28R

Pathogenic

1

nl

c.IVS7-2A > G

aberrant splicing

Pathogenic

c.1975G > C

V659L

Pathogenic

1

EVA

c.IVS7-2A > G

aberrant splicing

Pathogenic

c.IVS9 + 1G > A

aberrant splicing

Pathogenic

2

EVA

c.IVS7-2A > G

aberrant splicing

Pathogenic

c.2265C > A

T755T

Silent variant

1

EVA

c.IVS7-2A > G

aberrant splicing

Pathogenic

c.IVS5 + 27 T > C

Variant in intron

Unclassified variant

1

EVA

c.1548insC

FX517,526X

Pathogenic

c.IVS11 + 47 T > C

Variant in intron

Unclassified variant

1

EVA

c.2168A > G

H723R

Pathogenic

   

1

EVA

c.IVS7-2A > G

aberrant splicing

Pathogenic

   

3

nl

c.IVS7-2A > G

aberrant splicing

Pathogenic

   

1

EVA

c.intron6-75_ 76 insTGTG

aberrant splicing

Unclassified variant

   

1

nl

c.IVS7 + 35A > G

Variant in intron

Unclassified variant

   

1

nl

c.IVS7 + 40G > A

Variant in intron

Unclassified variant

   

1

nl

WT

  

WT

  

2

EVA

  1. nl, normal; EVA, enlarged vestibular aqueduct; IVS7, intravening sequence7(intron 7); IVS9, intravening sequence9(intron 9); IVS5, intravening sequence5(intron 5); IVS11, intravening sequence11(intron 11); WT, wildtype.
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Journal of Translational Medicine

ISSN: 1479-5876

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