Table 2.
Olfactory phenotype of monoallelic and biallelic genetic mutations in a single gene (monogenic changes)
| Genesa | Olfactory phenotype (no. of subjects) |
|
|---|---|---|
| Subjects with monoallelic mutations | Subjects with biallelic mutations | |
| KAL1 (n = 3; 1.4%) | Hyposmic (1)b | Anosmic (2)c |
| PROKR2 (n = 9; 4.3%) | Anosmic (2), normosmic (7) | |
| FGF8 (n = 2; 1%) | Hyposmic (2) | |
| FGFR1 (n = 27; 13%) | Anosmic (5), hyposmic (14), normosmic (4) | Hyposmic (2), normosmic (2) |
| GNRHR (n = 7; 3.4%) | Hyposmic (2), normosmic (1) | Hyposmic (1), normosmic (3) |
| GNRH1 (n = 2; 1%) | Normosmic (2) | |
| TAC3 (n = 2; 1%) | Normosmic (1) | Hyposmic (1) |
| TACR3 (n = 7; 3.4%) | Normosmic (7) | |
| KISS1 (n = 2; 1%) | Hyposmic (2) | |
| KISS1R (n = 2; 1%) | Hyposmic (1), normosmic (1) | |
a
No mutations in PROK2 or NELF were seen in this study.
b
Monoallelic female subject.
c
Hemizygous KAL1 changes.