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] |