Table 3.
Digenic nHH/KS patients as reviewed in Quaynor et al (2011). M = male; F = female. The genotypes are shown with the number of alleles affected in parentheses. Genes outlined in bold indicate those that would be sufficient to cause disease without a mutation in a second gene.
| Sex | Phenotype | Genotype | |
|---|---|---|---|
| 1 | M | KS | KAL1 (1)/PROKR2 (1) |
| 2 | M | KS | KAL1 (1)/PROKR2 (1) |
| 3 | M | KS | FGFR1 (1)/NELF (1) |
| 4 | F | nIHH | FGFR1 (1)/GNRHR (2) |
| 5 | F | KS | PROK2 (1)/PROKR2 (1) |
| 6 | M | nIHH | FGFR1 (2)/FGF8 (2) |
| 7 | M | nIHH | FGFR1 (1)/FGF8 (1) |
| 8 | F | nIHH | FGFR1 (1)/GNRHR (2) |
| 9 | F | nIHH | FGFR1 (1)/PROKR2 (1) |
| 10 | M | KS | NELF (1)/TACR3 (1) |
| 11 | F | nIHH | FGFR1 (1)/KAL1 (1) |
| 12 | M | KS | FGFR1 (1)/FGF8 (1) |
| 13 | M | KS | FGR1 (1)/NELF (1) |
| 14 | M | KS | KAL1 (1)/NELF/PROKR2 (1/1) |
| 15 | M | KS | KAL1 (1)/TACR3 (1) |
| 16 | M | KS | WDR11 (1)/KAL1 (1) |
| 17 | M | nIHH | WDR11 (1)/KAL1 (1) |
| 18 | M | nIHH | WDR11 (1)/GNRHR (1) |