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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)