Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

Table 2 Identified mutations of GDF5 in relation to proximal symphalangism and multiple synostoses syndrome 2

Ref.	Syndrome	Mutation identified	Effect on codon
Wang et al[6]	SYM1	1471 G - A	Glutaminic acid to lysine (E491K)
Yang et al[7]	SYM1	1118 T - G	Leukine to arginine (L373R)
Seemann et al[4]	SYM1	1632 G - T	Arginine to leucine (R438L)
Dawson et al[5]	SYNS2	1313 G - T	Arginine to leucine (R438L)

SYM1: Proximal symphalangism; SYNS2: Multiple synostoses syndrome 2.