MDSGene

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Doostzadeh, 2007	Mutational screen	1	n.a.	0%	30	p.Leu347Pro: hom
Chishti, 2006	Other/Mixed	2	B	n.a.	32(+/-3)	p.Thr313Met: hom
Leutenegger, 2006	Family study	5	B	40%	13(+/-2)	p.Ala217Asp: hom
Hedrich, 2006	Family study	4	C	25%	50(+/-9)	p.Gln456*: hom
Criscuolo, 2006	Other/Mixed	1	n.a.	0%	22	p.Trp437*: hom
Zadikoff, 2006	Case report/Case series	1	n.a.	100%	37	p.Gln456*: hom
Tan, 2006	Mutational screen	2	n.a.	50%	38(+/-19)	p.Arg246: hom p.Tyr258: hom
Ibáñez, 2006	Other/Mixed	12	n.a.	50%	35(+/-8)	p.Gln456: hom p.Cys125Gly + p.Gln456: comp. het. p.Glu240Lys: hom p.Leu369Pro + p.Arg492: comp. het. p.Gly386Ala: hom p.Gly409Val: hom p.Lys520Argfs3: hom p.Lys24Glyfs31 Show more (+5) + p.Cys549Trpfs5: comp. het.
Bonifati, 2005	Mutational screen	3	n.a.	33%	32(+/-3)	p.Ala168Pro: hom p.Trp437: hom p.Gln456: hom
Klein, 2005	Mutational screen	1	n.a.	0%	32	p.Gln534_Ser535insGln: hom