MDSGene

Filter for

carrying

Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Xie, 2019	Family study	2	A	50%	46(+/-8)	p.Tyr832Cys: hom
Hong, 2018	Family study	2	n.a.	50%	30(+/-2)	p.Ala860Glyfs*5 + p.Pro1282Leu: comp. het.
Ben Romdhan, 2018	Family study	2	n.a.	50%	19(+/-4)	p.Lys1321Glu + p.Leu1406Phefs*42: comp. het.
Taghavi, 2017	Other/Mixed	1	n.a.	100%	24	p.Arg839Cys: hom
Rauschendorf, 2017	Family study	2	C	100%	14(+/-1)	p.Arg258Gln + p.Trp171*: comp. het.
Kirola, 2016	Family study	2	I	50%	15(+/-4)	p.Arg459Pro: hom
Olgiati, 2014	Family study	2	C	50%	22(+/-8)	p.Arg258Gln: hom
Quadri, 2013	Other/Mixed	2	C	50%	25(+/-4)	p.Arg258Gln: hom
Krebs, 2013	Family study	2	n.a.	50%	21(+/-1)	p.Arg258Gln: hom