Table 5. Genotypes of patients harboring mutations in autosomal-dominant inherited genes.
Gene | Allele 1 | Allele 2 | No. of patients | Frequency | ||||
---|---|---|---|---|---|---|---|---|
Nucleotide change | Amino acid change | Pathogenic type | Nucleotide change | Amino acid change | Pathogenic type | |||
KCNQ4 | c.546C>G | p.Phe182Leu | D | —— | —— | —— | 4 | 36.36% |
WFS1 | c.1846G>T | p.Ala616Ser | D | —— | —— | —— | 3 | 27.27% |
TECTA | c.249C>T | p.Thr83Met | D | —— | —— | —— | 2 | 18.18% |
MYH9 | c.2114G>A | p.Arg705His | D | —— | —— | —— | 2 | 18.18% |
Total | 11 | 100.00% |
D: autosomal dominant inheritance.