Albertine Donker

Chapter 4 174 Supplemental Table 4. Characteristics of relatives of IRIDA probands ID Family relation Sex (M/F) Age Diagnosis IRIDA (years) TMPRSS6 defect Allele 1; Allele 2 A. Relatives with 2 affected TMPRSS6 alleles 9 proband F 32 c.497delT; c.1324G>A p.Leu166Argfs*37; p.Gly442Arg brother M 40 c.497delT; c.1324G>A p.Leu166Argfs*37; p.Gly442Arg 11 proband F 2 c.497delT; c.2383G>A p. Leu166Argfs*37; p.Val795Ile sister F 4 c.497delT; c.2383G>A p.Leu166Argfs*37; p.Val795Ile B. Relatives with 1 or 0 affected TMPRSS6 allele 1 proband F 9 c.del 118 kb intron 2- exon 3-18 1 c.del 118 kb intron 2 -exon 3-18 p.nonsense;p.nonsense mother F 32 c.del 118 kb intron 2- exon 3-18; Wt p.nonsense; Wt father M 38 c.del 118 kb intron 2- exon 3-18; Wt p.nonsense; Wt brother M 8 c.del 118 kb intron 2- exon 3-18; Wt p.nonsense; Wt 2 d proband F 7 c.del promotor, exon 1-3; c.496delT p.nonsense;p.Leu166Argfs*37 15 d proband/ mother F 37 c.del promotor, exon 1-3; Wt p.nonsense; Wt father M 43 c.497delT; Wt p.Leu166Argfs*37; Wt brother M 9 c.del promotor, exon 1-3; Wt p.nonsense; Wt maternal grandfather M 72 c.del promotor, exon 1-3; Wt p.nonsense; Wt sister of maternal grandfather F 67 c.del promotor, exon 1-3; Wt p.nonsense; Wt 3 proband F 21 c.497delT; c.497delT p.(Leu166Argfs*37); p.(Leu166Argfs*37_ mother F 56 c.497delT; Wt p.Leu166Argfs*37; Wt father M 59 c.497delT; Wt p.Leu166Argfs*37; Wt brother M 19 Wt;Wt