MDSGene

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Minnerop, 2015	Case report/Case series	1	C	0%	20	p.Asp45Argfs*9: hom
Yoshida, 2014	Case report/Case series	1	A	100%	41	p.Ile166Alafs*3: hom
Balreira, 2014	Case report/Case series	2	n.a.	0%	38(+/-11)	p.Asp615Asn + p.Asp45Argfs9: comp. het. p.Glu382: comp. het.
Fogel, 2014	Mutational screen	1	C	100%	n.a.	p.Asp45Argfs*9: hom
Renaud, 2014	Case report/Case series	9	n.a.	33%	33(+/-7)	c.1668+1G>A: hom p.Gln431* + p.Gly229Trp: comp. het. p.Asp45Argfs9 + p.Phe337Val: comp. het. p.Leu405 + p.Ser432_Leu492del: comp. het. c.(1797+1_1798-1)_(1914+1_1915-1)del: hom c.(1797+1_1798-1)_(1914+1_1915-1)del: comp. het. p.Phe171Ser: comp. het. Show more (+4)
Maruyama, 2014	Case report/Case series	1	A	100%	46	p.Tyr203*: hom
Chamova, 2012	Family study	3	O	67%	17(+/-1)	p.Leu384Asnfs*91: hom
Vermeer, 2010	Case report/Case series	8	n.a.	38%	24(+/-11)	p.Leu510Arg: hom p.Leu384Asnfs91: hom p.Leu535 + p.Ser432_Leu492del: comp. het.