Table 3. Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.
| Gene | Allele 1 | Allele 2 | No. of patients | Frequency | ||||
|---|---|---|---|---|---|---|---|---|
| Nucleotide change | Amino acid change | Pathogenic type | Nucleotide change | Amino acid change | Pathogenic type | |||
| GJB2 | c.235delC | Frameshift | R | c.235delC | Frameshift | R | 39 | 43.33% |
| c.427C>T | p.Arg143Trp | R | c.427C>T | p.Arg143Trp | R | 4 | 4.44% | |
| c.608T>C | p.Ile203Thr | R | c.608T>C | p.Ile203Thr | R | 1 | 1.11% | |
| c.299-300delAT | Frameshift | R | c.299-300delAT | Frameshift | R | 3 | 3.33% | |
| c.35delG | Frameshift | R | c.35delG | Frameshift | R | 1 | 1.11% | |
| c.235delC | Frameshift | R | c.139G>T | p.Glu47Term | R | 1 | 1.11% | |
| c.235delC | Frameshift | R | c.299-300delAT | Frameshift | R | 11 | 12.22% | |
| c.235delC | Frameshift | R | c.608T>C | p.Ile203Thr | R | 1 | 1.11% | |
| c.235delC | Frameshift | R | c.368C>A | p.Thr123Asn | R | 1 | 1.11% | |
| c.368C>A | p.Thr123Asn | R | c.608T>C | p.Ile203Thr | R | 1 | 1.11% | |
| SLC26A4 | c.IVS7-2A>G | Aberrant splicing | P/E/R | c.IVS7-2A>G | Aberrant splicing | P/E/R | 10 | 11.11% |
| c.IVS7-2A>G | Aberrant splicing | P/E/R | c.2168A>G | p.His723Arg | P/E/R | 5 | 5.56% | |
| c.IVS7-2A>G | Aberrant splicing | P/E/R | c.1174A>T | p.Asn392Tyr | R | 2 | 2.22% | |
| c.IVS7-2A>G | Aberrant splicing | P/E/R | c.589G>A | p.Gly197Arg | E | 1 | 1.11% | |
| c.IVS7-2A>G | Aberrant splicing | P/E/R | c.IVS10-12T>A | Aberrant splicing | E/R | 3 | 3.33% | |
| c.2168A>G | p.His723Arg | P/E/R | c.754T>C | p.Ser252Pro | R | 1 | 1.11% | |
| c.2168A>G | p.His723Arg | P/E/R | c.IVS10-12T>A | Aberrant splicing | E/R | 1 | 1.11% | |
| c.1174A>T | p.Asn392Tyr | R | c.1343C>A | p.Ser448Term | R | 1 | 1.11% | |
| CDH23 | c.6823G>A | p.Arg2608His | R | c.8866C>T | p.Arg2956Cys | R | 1 | 1.11% |
| c.6823G>A | p.Arg2608His | R | c.2968G>A | p.Asp990Asn | R | 1 | 1.11% | |
| MYO15A | c.3685C>T | p.Gln1229Term | R | c.9478C>T | p.Leu3160Phe | R | 1 | 1.11% |
| Total | 90 | 100.00% | ||||||
D: autosomal dominant inheritance; R: autosomal recessive inheritance; P: Pendred syndrome; E: enlarged vestibular aqueduct syndrome.