|
GJB2 genotypes with unknown consequences in 16 families |
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| Number of families |
Genotype** |
Hearing loss**** |
Mode of inheritance |
|
|
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| 3 |
35delG/+ |
1P progressive; 1M; 1U |
1SC,1AR, 1un |
| 2 |
R127H/M34T |
2P |
1AR,1SC |
| 1 |
R127H/W24X |
P to M *** |
1AR |
| 1 |
M34T/V37I |
1 mild |
1SC |
| 2 |
M34T/+ |
1 mild, 1M |
2AD |
| 1 |
(IVS1-12C>T)2*/-34T/G* |
P |
un |
| 2 |
IVS1-12C>T*/+ |
1P progressive, 1P |
1SC, 1un |
| 2 |
V37I/+ |
1M, 1P |
1AR, 1un |
| 1 |
V153I/+ |
M |
1SC |
| 1 |
G160S/+ |
P |
1SC |
|
* novel sequence variant ** + designates the wild type allele *** variable phenotype within the family **** P: profound; M: moderate; U: unilateral; un: unknown | |||
Roux et al. BMC Medical Genetics 2004 5:5 doi:10.1186/1471-2350-5-5 |
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