Table I.
AD nonsyndromic and syndromic GJB2 mutations
| Mutation | Protein domain | Number of affecteds | Phenotype | Reference | |
|---|---|---|---|---|---|
| cDNA level | Protein level | ||||
| c.131G>C | W44S | E1 | - | Nonsyndromic | [http://davinci.crg.es/deafness/] |
| c.132G>C | W44C | E1 | 2 French families | Nonsyndromic | [Denoyelle et al. 1998] |
| c.223C>T | R75W | M2 | - | Nonsyndromic | [Janecke et al. 2001; Mani et al. 2008] |
| c.224G>A | R75Q | M2 | 4 | Nonsyndromic | [http://davinci.crg.es/deafness/] |
| c.428G>A | R143Q | M3 | 1 Austrian family | Nonsyndromic | [Löffler et al. 2001] |
| c.487A>C | M163L | E2 | Nonsyndromic | [Matos et al, 2008] | |
| c.535G>A | D179N | E2 | 1 Italian family | Nonsyndromic | [http://davinci.crg.es/deafness/] |
| c.551G>A | R184Q | E2 | - | Nonsyndromic | [Hamelmann et al, 2001] |
| c.605G>T | C202F | M4 | A large French family | Nonsyndromic | [Morlé et al. 2000] |
| c.34G>C | G12R | NT | 1 | Syndromic (Keratitis-Ichthyosis-Deafness) | [Richard et al. 2002] |
| c.42C>G | N14K | NT | 1 | Hypotrichosis-deafness | [van Steensel et al. 2004] |
| c.40A>C | N14Y | NT | 1 | Syndromic (Keratitis-Ichthyosis-Deafness) | [Arita et al. 2006] |
| c.50C>T | S17F | NT | 1 | Syndromic (Keratitis-Ichthyosis-Deafness) | [Richard et al. 2002] |
| c.119C>T | A40V | M1 | 1 | Syndromic (Keratitis-Ichthyosis-Deafness and the follicular occlusion triad) | [Montgomery JR et al. 2004] |
| 125_127delAGG | E42del | M1 | 1 family | Syndromic (Palmoplantar keratoderma with deafness) | [Rouan et al. 2001] |
| c.134G>A | G45E | E1 | - | Syndromic (Keratitis-Ichthyosis-Deafness) | [Janeck et al. 2005; Jonard et al. 2008] |
| c.148G>A | D50N | E1 | 7 | Syndromic (Keratitis-Ichthyosis-Deafness; Hystrix-like Ichthyosis-Deafness) | [van Steensel et al. 2002] |
| c.148G>T | D50Y | E1 | 1 | Syndromic (Keratitis-Ichthyosis-Deafness) | [Yotsumoto et al. 2003] |
| c.160A>C | N54H | E1 | 1 | Syndromic (Bart-Pumphrey) | [Akiyama et al. 2007] |
| not described | N54K | E1 | 1 family | Syndromic (Bart-Pumphrey) | [Richard et al. 2000] |
| c.175G>C | G59R | E1 | 1 | Syndromic (Palmoplantar keratoderma with deafness) | [Leonard et al. 2005] |
| c.175G>A | G59S | E1 | 1 | Syndromic (Palmoplantar keratoderma with deafness) | [Alexandrino et al. 2005] |
| c.176C>G | G59A | E1 | 1 family | Syndromic (Palmoplantar keratoderma with deafness) | [Heathcote et al. 2000] |
| c.196G>C | D66H | E1 | 10 | Syndromic (Vohwinkel) | [Maestrini et al. 1999] |
| c.219A>G | H73R | M2 | 1 family | Syndromic (Palmoplantar keratoderma with deafness) | [de Zwart-Storm et al. Mar. 2008] |
| c.223C>T | R75W | M2 | - | Syndromic (Palmoplantar keratoderma with deafness) | [Richard et al. 1998; Yuan et al. 2008] |
| c.224G>A | R75Q | E1 | 1 Turkish family | Syndromic (Palmoplantar keratoderma with deafness) | [Uyguner et al. 2002] |
| c.389G>T | G130V | CL | 1 family | Syndromic (Vohwinkel) | [Snoeckx et al. 2005] |
| c.424T>C | F142L | M3 | 1 | Syndromic (Mucositis-deafness) | [Brown et al. 2003] |
| c.548C>T | S183F | E2 | 1 family | Syndromic (Palmoplantar keratoderma with deafness) | [de Zwart-Storm et al. 2008] |