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Table 1 Summary of all reported PDZD7 variants to date

From: Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss

ID

Origin

Disease

Genotype

Mutation type

HGVS.cDNA

HGVS.protein

Location

Domain

Age of onset

Auditory threshold

Auditory profile

References

1

China

NS-SNHL

Homo

Frameshift

c.2372del

p.Ser791fs

Exon 15

PR

Congenital

Moderate to severe

Down-sloping

This study

2

China

NS-SNHL

Comp Het

Missense and Nonsense

c.192G > A and c.1648C > T

p.Met64Ile and p.Gln550Ter

Exon 2

–*

Prelingual

Mild to moderate

Down-sloping

[16]

   

Comp Het

In-frame deletion

c.2341_2352del

p.Arg781_Ser784del

Exon 15

PR

    

3

Germany

NS-SNHL

Comp Het

Nonsense

c.1648C > T

p.Gln550Ter

Exon 10

Prelingual

Moderate to severe

Down-sloping

[17]

   

Comp Het

Frameshift

c.2107del

p.Ser703fs

Exon 15

PR

    

4

China

NS-SNHL

Comp Het

Frameshift

c.166_167insC

p.Arg56fs

Exon 2

Prelingual

Moderate to severe

Down-sloping

[18]

   

Comp Het

Frameshift

c.1207del

p.His403fs

Exon 8

    

5

China

NS-SNHL

Homo

Missense

c.197G > T

p.Arg66Leu

Exon 2

Prelingual

Moderate to severe

Down-sloping

[18]

6

Iranian

NS-SNHL

Homo

Missense

c.307G > C

p.Gly103Arg

Exon 3

PDZ1

Prelingual

Moderate to severe

Down-sloping

[3]

7

Iranian

NS-SNHL

Homo

Missense

c.682G > A

p.Gly228Arg

Exon 5

PDZ2

Prelingual

Severe

Flat

[3]

8

Iranian

NS-SNHL

Comp Het

Missense

c.854 T > G

p.Met285Arg

Exon 6

PDZ2

Prelingual

Moderate to severe

Down-sloping

[3]

   

Comp Het

Nonsense

c.1500C > A

p.Thr500Ter

Exon 9

    

9

Iranian

NS-SNHL

Homo

Nonsense

c.1576C > T

p.Gln526Ter

Exon 9

Prelingual

Severe

Flat

[3]

10

South Korea

NS-SNHL

Homo

Missense

c.490C > T

p.Arg164Trp

Exon 4

PDZ1

Prelingual

Moderate to severe

NA

[19]

11

South Korea

NS-SNHL

Comp Het

Missense

c.490C > T

p.Arg164Trp

Exon 4

PDZ1

Prelingual

Severe

NA

[19]

   

Comp Het

Frameshift

c.1669del

p.Arg557fs

Exon 11

HNL

    

12

South Korea

NS-SNHL

Comp Het

Missense

c.490C > T

p.Arg164Trp

Exon 4

PDZ1

prelingual

Moderate to severe

NA

[19]

   

Comp Het

Missense

c.1526G > A

p.Gly509Glu

Exon 10

    

13

Pakistani

NS-SNHL

Homo

Splicing

c.226 + 2_226 + 5del

Intron 2

Congenital

Moderate

NA

[20]

14

Iranian

NS-SNHL

Homo

Missense

c.251 T > C

p.Ile84Thr

Exon 3

PDZ1

NA

Severe

Down-sloping

[21]

15

China

NS-SNHL

Comp Het

In-frame deletion

c.1574_1597del

p.Asp525_Leu533del

Exon 9

congenital

Moderate

NA

[22]

  

NS-SNHL

Comp Het

Missense

c.490C > T

p.Arg164Trp

Exon 4

PDZ1

    

16

South Korea

NS-SNHL

Het/Digenic with ADGRV1

Frameshift

c.76_77del

p.Ser26fs

Exon 2

prelingual

Mild to moderate

Down-sloping

[23]

17

France

Usher syndrome type 2

Het/Usher modifier/co-segregate with biallelic USH2A variants

Frameshift

c.166_167insC

p.Arg56fs

Exon 2

prelingual

Moderate

NA

[5]

18

Germany

Usher syndrome type 2

Het/Usher modifier/co-segregate with biallelic USH2A variants

Splicing

c.1750-2A > G

Intron 11

Prelingual

Moderate

NA

[5]

19

Germany

Usher syndrome type 2

Het/Digenic with ADGRV1

Frameshift

c.2194_2203del

p.Cys732fs

Exon 15

PR

Diagnosed at age 5

Moderate to severe

NA

[5]

  1. Homo homozygosity, Het heterozygosity, Comp Het compound heterozygosity, NA not available, PR proline-rich domain, HNL harmonin-N-like domain, PDZ, PDZ domain
  2. *“–” denotes that the variant lies in the protein where no domains were identified