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 |