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Other PAE mutations show the same enrichment in sperm
FGFR2 c.755C>G p.S252W r = 0.39
FGFR3 c.1948A>G p.K650E r = 0.34
Thanatophoric dysplasia II
Why are these mutations so ‘common’?
HRAS c.34G>A p.G12S r = 0.52
Costello syndrome
Apert syndrome
...but not all mutations show enrichment in sperm
Page 29 of 102
Goriely et al Science (2003); Nat Gen (2009); Giannoulatou et al PNAS (2013)
FGFR2 c.755C>G p.S252W FGFR3 c.1948A>G p.K650E HRAS c.34G>A p.G12S
r = 0.39 r = 0.34
r = 0.52
Goriely et al Science (2003); Nat Gen (2009); Giannoulatou et al PNAS (2013)
Only mutations encoding GOF proteins are enriched in sperm and show an age-dependant increase
PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 35
