Table 1.
Country | Exon | Mutationa | Consequence | Hearing Loss | Reference |
---|---|---|---|---|---|
Germany | 1 | c.143 T>C* | p.L48P | Profound | 2 |
2 | c.186_187delCA | Frameshift | |||
Tunisia | 2 | c.393insG | Frameshift | Profound | 2 |
Jordan | 2 | c.832_851del20** | Frameshift | Profound | 2 |
U.S.A | 1 | c.113 G>A | p.W38X | Profound | 5 |
Turkey | 2 | c.1373 A>T | p.D458V | Variable (moderate to profound) | 4 |
Pakistan | 1 | c.163_164+13del15 | Frameshift | Moderate to severe | This report |
Numbers with respect to the open reading frame of SANS, corresponding to cDNA sequence from GenBank (AK091243) with the first nucleotide in the initiation codon designated as “+1”.
Originally reported as c.142 C>T.
Originally reported as 829_848del20.