. Author manuscript; available in PMC: 2010 Jan 1.

Published in final edited form as: Nat Rev Genet. 2009 Jul;10(7):478–488. doi: 10.1038/nrg2529

Table 1. Are mutations in other genes subject to germline selection?

Relevant references are given in the main text. FGFR2 and FGFR3-members of the fibroblast growth factor receptor family. RET-rearranged during transfection protooncogene. MEN2B-Multiple Endocrine Neoplasia type 2B. MECP2-member of the methyl-CpG-binding protein family.

Disease	Recurrent sporadic nucleotide substitution	Mode of transmission	Gene	Unexpected “high” mutation frequency	Virtually exclusive paternal origin	Paternal age effect	Direct testis analysis
Apert Syndrome	755C>G 758C>G	Dominant	FGFR2	Yes	Yes	Yes	Yes
Achondro plasia	1138G>A	Dominant	FGFR3	Yes	Yes	Yes	Partial
MEN2B	2943T>C	Dominant	RET (protooncogene)	Possibly	Yes	Yes	No
Rett Syndrome	Recurrent mutations at 8 CpG sites	X-linked (only females affected)	MECP2	Possibly	Yes	Weak	No