MDSGene

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Yang, 2020	Family study	1	A	0%	37	p.Ser415*: hom
Nieto, 2019	Case report/Case series	3	n.a.	33%	32(+/-5)	p.Asp45Argfs*9: hom
Nanetti, 2019	Mutational screen	10	n.a.	40%	40(+/-8)	p.Met97: hom p.Ser363Ilefs7: hom p.Leu173Argfs7 + p.Met97: comp. het. p.Asp473Alafs36 + c.337+1G>A: comp. het. p.Trp272Ser + c.(1797+1_1798-1)_(1914+1_1915-1)del: comp. het. p.Gln431 + p.Asp45Argfs9: comp. het. p.Trp555Ser: comp. het. p.Ala520Glyfs7: comp. het. Show more (+5)
Kang, 2019	Mutational screen	2	n.a.	50%	37(+/-6)	p.Asp45Argfs*9 + c.1219-1G>T: comp. het. p.Met1?: hom
Sun, 2019	Mutational screen	3	n.a.	33%	19(+/-2)	p.Asp45Argfs9: hom p.Tyr102 + p.Glu33Asnfs*3: comp. het.
Coutelier, 2018	Mutational screen	4	n.a.	n.a.	23(+/-1)	p.Asp45Argfs9 + p.Cys513Arg: comp. het. p.Asp45Argfs9: hom p.Met97*: hom
Bogdanova-Mihaylova, 2017	Family study	3	C	67%	36(+/-6)	p.Asp45Argfs*9: hom
Bodranghien, 2017	Case report/Case series	1	n.a.	0%	24	c.1219-1G>T: hom
Mišković, 2016	Family study	11	O	45%	19(+/-6)	p.Leu384Asnfs*91: hom
Chamard, 2016	Family study	2	C	50%	28(+/-3)	p.Asp45Argfs*9 + p.Phe337Val: comp. het.