Table 2 Pathogenic mutations identified in USH1 genes.
| Gene | Exon/intron | Nucleotide exchange | Translation effect | In silico analysis* | Number of patients, origin | Alleles in control chromosomes (n) | Original reference |
|---|---|---|---|---|---|---|---|
| MYO7A | 4 | c.223delG | p.Asp75ThrfsX30 | 2, France | 22 | ||
| 5 | c.397C→G | p.His133Asp | Affects protein function (0.00) | 1, France† | 0/352 | 23 | |
| 6 | c.487G→C | p.Gly163Arg | Affects protein function (0.00) | 1, Algeria | 0/664 | This study | |
| 6 | c.487G→A | p.Gly163Arg | Affects protein function (0.00) | 1, Turkey | 0/664 | § | |
| 6 | c.491A→G | p.Lys164Arg | Affects protein function (0.00) | 1, North Africa | 0/664 | This study | |
| 6 | c.494C→T | p.Thr165Met | Affects protein function (0.00) | 1, France | 0/664 | 21 | |
| 6‐7 | c.592G→A | p.Ala198Thr | Affects protein function (0.00) and splicing | 1, Algeria | 0/664 | This study | |
| 7 | c.610A→G | p.Thr204Ala | Affects protein function (0.00) | 1, Algeria | 0/352 | This study | |
| 10 | c.1005_1012delins40 | p.Ala335AlafsX37 | 1, Senegal | This study | |||
| Intron 13 | c.1555‐8C→G | Affects splicing | 2, France | 7 | |||
| 14 | c.1556G→A | p.Gly519Asp | Affects protein function (0.01) | 1, France | 0/336 | 11 | |
| Intron 19 | c.2283‐1T→G | Affects splicing | 1, Algeria | This study | |||
| 28 | c.3508G→A | p.Glu1170Lys | Affects protein function (0.00) | 2, France1, North Africa | 0/352 | 16 | |
| 29 | c.3719G→A | p.Arg1240Gln | Affects protein function (0.00) | 3, France | 0/1414 | 10 | |
| 32 | c.4297delC | p.Gln1433SerfsX115 | 1, France | This study | |||
| 39 | c.5392C→T | p.Gln1798X | 1, France | 10 | |||
| 40 | c.5573T→C | p.Leu1858Pro | Affects protein function (0.00) | 1, France | 0/1176 | 11 | |
| 40 | c.5617C→T | p.Arg1873Trp | Affects protein function (0.00) | 1, France | 0/1176 | This study | |
| 40 | c.5632delC | p.Leu1878X | 1,France/Antilles | This study | |||
| 43 | c.5886_5888delCTT | p.Phe1962del | 1, France | § | |||
| 43 | c.5886_5889delCTTT | p.Phe1962LeufsX6 | 1, France | 24 | |||
| 44 | c.6025delG | p.Ala2009ProfsX31 | 1, France | 11 | |||
| 46 | c.6324_6339del | p.Pro2108fsX4 | 1, France | This study | |||
| CDH23 | 1 | c.65G→A | p.Trp22X | 1,France/Britany | This study | ||
| 7 | c.739G→A | p.Glu247Lys | Tolerated (0.28) | 1, France | 0/168 | This study | |
| 29 | c.3481C→T | p.Arg1161X | 1, France | This study | |||
| 34 | c.4309C→T | p.Arg1437X | 1, France | This study | |||
| 45 | c.6049G→A | p.Gly2017Ser§ | Tolerated (0.68) , affects splicing | 1, France | This study | ||
| Intron 45 | c.6050‐9G→A | Affects splicing | 1, France | 5, 25 | |||
| 47 | c.6620delT | p.Leu2207GlnfsX26 | 1, France | This study | |||
| 47 | c.6307G→T | p.Glu2103X | 1, France | 5 | |||
| 53–54 | c.7660G→T | p.Glu2554X | 1, France | This study | |||
| Intron 55 | c.8064+2T→C | Affects splicing | 1, France | This study | |||
| PCDH15 | 1 | E1 del | 1, France | This study | |||
| 3–5 | E3‐E4‐E5 del | 1, France | This study | ||||
| 5 | c.423_430dup | p.Ser144LeufsX15 | 1, France | This study | |||
| 8 | c.866_876+6del | unknown | 1, France | This study | |||
| 8 | c.868A→T | p.Arg290X | 1, France | This study | |||
| 8 | E8 del | 1, France | This study | ||||
| 10 | c.1036G→T | p.Glu346X | 1, France | This study | |||
| 16 | c.1927C→T | p.Arg643X | 1, France | 6 | |||
| 22 | c.2971C→T | p.Arg991X | 1, France | This study | |||
| 23 | c.3121A→T | p.Arg1041X | 1, France | This study | |||
| USH1C | 3 | c.238_239insC | p.Arg80ProfsX68 | 1, Guinea | 19, 20 | ||
| 4 | c.308G→A | p.Arg103His | Affects protein function (0.03) | 1, France | 0/352 | This study | |
| Intron 7 | c.522‐2A→T | Affects splicing | 1, France | This study |
Because truncating mutations are most likely to be pathogenic, no control DNAs were tested for these variations. In silico studies were performed using SIFT program on missense mutations. Statistical value is p<0.05 in favour of the pathogenic nature of the mutation. Splicing effects were calculated using http://www.genet.sickkids.on.ca/˜ali/splicesitefinder.html
*SIFT prediction (score) on missense mutations and/or splicing effect.
†Patient already reported in Maubaret et al., 2005.
§Mutations mentioned in GeneReviews (Kimberling, www.genetests.org).