Table 1.
KS genes.
| Genes | KAL1 | FGFR1 and FGF8 | PROKR2 and PROK2 | CHD7 | WDR11 | HS6ST1 | SEMA3A |
|---|---|---|---|---|---|---|---|
| Mode(s) of transmission | X-linked recessive | Autosomal dominant (incomplete penetrance) or digenic/oligogenic | Autosomal recessive or digenic/oligogenic | ? | ? | digenic/oligogenic? | digenic/oligogenic? |
| Strategy for gene identification | Cytogenetics | Cytogenetics and mouse model | Mouse models | Candidate gene | Cytogenetics | C. elegans model | Mouse model |
| Prevalence of mutations in KS patients | 8% of male patients | 10 and <1% | 7 and 3% | 1–5% | <1% | <1% | 6% |
| Reference | Legouis et al. (1991), Franco et al. (1991), Hardelin et al. (1992) | Dodé et al. (2003), Falardeau et al. (2008) | Dodé et al. (2006) | Kim et al. (2008), Jongmans et al. (2009) | Kim et al. (2010) | Tornberg et al. (2011) | Hanchate et al. (2012), Young et al. (2012) |
?, not known.