MDSGene

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Saranza, 2020	Case report/Case series	1	A	0%	n.a.	p.Arg611Trp: hom
Chelban, 2020	Mutational screen	8	n.a.	38%	n.a.	p.Gly59Asp: hom p.Pro496Leu: hom p.Gly545Asp: het p.Leu696Profs10: het p.Gly680Ser: het p.Gln109: het p.Trp426Cysfs*11: het Show more (+4)
Chen, 2020	Mutational screen	8	A	63%	n.a.	p.Arg113_Ser116dup: hom p.Arg227Gly + p.Arg504Pro: comp. het. p.Arg261Leu + p.Ile656Thr: comp. het. p.Ile656Thr: hom p.Arg298Pro: hom p.Gly64Glu: hom Show more (+3)
Taglia, 2019	Family study	2	C	50%	n.a.	p.Cys125_Leu132delinsVal + p.Arg314*: comp. het.
Ferreira, 2019	Mutational screen	1	n.a.	0%	n.a.	p.Gly286Trpfs*149: hom
Grangeon, 2019	Mutational screen	13	n.a.	54%	n.a.	p.Leu622Pro + p.Leu113Arg: comp. het. p.Ile656Thr + p.Thr476Asn: comp. het. p.Asp434His: hom p.Trp249Cys: hom p.Arg113_Ser116dup + p.Arg611Trp: comp. het. p.Ala373Asp + p.Ser513del: comp. het. p.Ala236dup: hom p.Gln445: comp. het. p.Tyr360Metfs74 + p.Glu466Argfs*27: comp. het. p.Gly64Glu: hom Show more (+7)
Ramos, 2019	Family study	1	C	100%	n.a.	p.Asn511Thrfs*243: hom
Arkadir, 2019	Family study	8	n.a.	75%	n.a.	p.Phe411Leufs*23: hom p.Asp354del: hom
Forouhideh, 2019	Case report/Case series	3	n.a.	100%	n.a.	p.Ile656Thr: hom
Chen, 2019	Mutational screen	5	A	40%	n.a.	p.Arg113_Ser116dup: hom p.Arg113_Ser116dup + p.Trp229Cys: comp. het. p.Tyr477*: hom p.Leu143_Ile147del: hom Show more (+1)
Peng, 2019	Case report/Case series	1	n.a.	0%	n.a.	p.Gln445*: hom
Yao, 2018	Family study	6	A	83%	n.a.	p.Trp75: hom p.Trp443 + p.Met35Val: comp. het. p.Arg441Gly + p.Trp75: comp. het. p.Ser232Leu: hom p.Gln203 Show more (+2) + p.Arg261Leu: comp. het.

Overview of included studies for PFBC-MYORG: