Table 4. Genotypes of patients harboring mutations in multiple autosomal-recessive inherited genes.
Allele 1 | Allele 2 | No. of subjects | ||||||
---|---|---|---|---|---|---|---|---|
Gene | Nucleotide change | Amino acid change | Pathogenic type | Gene | Nucleotide change | Amino acid change | Pathogenic type | |
GJB2 | c.608T>C | p.Ile203Thr | R | SLC26A4 | c.IVS7_2A>G | Aberrant splicing | P/E/R | 1 |
GJB2 | c.368C>A | p.Thr123Asn | R | SLC26A4 | c.IVS7_2A>G | Aberrant splicing | P/E/R | 1 |
GJB2 | c.608T>C | p.Ile203Thr | R | SLC26A4 | c.1975G>C | p.Val659Leu | R | 1 |
GJB2 | c.368C>A | p.Thr123Asn | R | MYO3A | c.IVS8_2A>G | Aberrant splicing | R | 1 |
GJB2 | c.608T>C | p.Ile203Thr | R | MYO3A | c.IVS8_2A>G | Aberrant splicing | R | 1 |
GJB2 | c.235delC | Frameshift | R | PCDH15 | c.400C>G | p.Arg134Gly | R | 1 |
CDH23 | c.2968G>A | p.Asp990Asn | R | SLC26A4 | c.IVS7_2A>G | Aberrant splicing | P/E/R | 2 |
CDH23 | c.2968G>A | p.Asp990Asn | R | PCDH15 | c.400C>G | p.Arg134Gly | R | 1 |
CDH23 | c.6823G>A | p.Arg2608His | R | OTOF | c.IVS28_2A>C | Aberrant splicing | R | 1 |
Total | 10 |