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Table 2 Summary of the all reported PDZD7 mutations and associated phenotypes to date

From: A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

Nucleotide change

Consequence

Genotype

The affected Domain

Phenotype

Family origin

References

c.166_167insC

p.R56PfsX24

Hetero

USH2

Canadian

[5]

c.1750–2A>G

Splice site

Hetero

HNL

German

c.2194_2203del

p.C732LfsX18

Hetero

c.76_77del

p.S26LfsX53

Hetero

HL

Korean

[23]

c.307G>C

p.G103R

Homo

PDZ1

ARNSHL

Iranian

[12]

c.682G>A

p.G228R

Homo

PDZ2

c.1576C>T

p.Q526X

Homo

c.854T>G

c.1500C>A

p.M285R

p.Y500X

Comp Het

PDZ2

c.1648C>T

c.2107delA

p.Q550X

p.S703Vfs

Comp Het

ARNSHL

German

[15]

c.226+2_226+

5delTAGG

Abolished splicing in exon 2—intron 2 junction

Homo

ARNSHL

Pakistani

[24]

c.197G>T

p.R66L

Homo

-

ARNSHL

Chinese

[14]

c.1207delC

c.166-167insCa

p.H403Ifs

p.R56Pfs

Comp Het

c.1012delA

p.S338Afs

Usher syndrome, type 2A

ClinVar ID: 560723

c.192G>A

c.1648C>T

c.2341_2352del

p.M64I

p.Q550X

p.R781-S784del

Comp Het

ARNSHL

Chinese

[25]

c.490C>T

c.1669delC

c.1526G>A

p.R164W

p.R557Gfs*13

p.G509E

Homo/Comp Het

PDZ1 and HNLD

ARNSHL

Korean

[26]

c.251T>C

p.I84T

Homo

PDZ1

ARNSHL

Iranian

This report

  1. The first reported mutation in PDZD7 was detected by Schneider et al. as a consequence of a homozygous reciprocal translocation, t(10;11) [16]
  2. aThis frame-shift mutation was originally reported by Eberman et al. (5)