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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