GENES

KAL1

FGF8&FGFR

PROK2 & PROK2R

Autosomal recessive or oligogenc/digenic

WDR11

HSsST1

SEMA3A

Chd7

Modes of Transmission

Xlinked recessive

Autosomal Dominant, Incomplete penetrance, or oligogenic/digenic

?

Digenic/ Oligogenic

Digenic or oligogenic

?

Strategy for gene identificaton

Cytogenetics

Cytogenetics and Mouse Models

Mouse Models

Cytogenetics

C.elegans MODEL

Mouse Model

Candidate genes

Prevalence of mutations in KS pts

8% of male patients

10% & <1%

7% & 3%

≤1%

<1%

6%

1% - 6%

References

[7] [8]

[9] [10]

[11] [12]

[20]

[34]

[21]

Ogata T et al. 2006 [17] , Jongmans et al. 2009 [18] , Kim et al. 2008 [19]