Albertine Donker

Chapter 4 188 Supplemental Table 8. Parental haplotype analysis in families 19 and 20 ID Family relation TMPRSS6 variant Intragenic HFV a and TMPRSS6 variants b considered as pathogenic Allele 1; Allele 2 c.26+29C>T c.757A>G c.863+1G>T b c.1083G>A 19 Proband c.(863+1G>T); Wt na + - + - + - Sister c.(863+1G>T); Wt na + + + - + + Mother c.(863+1G>T); Wt na + - + - + - Brother Wt; Wt na - + - - - + 20 Proband c.(1654G>A); Wt + - + - - - + - Sister c.(1654G>A); Wt + - + - - - + - a Haplotype analysis was performed by genotyping 7 intra-genic High Frequency Variants (HFV’s) in the TMPRSS6 gene with Sanger sequencing b TMPRSS6 variants considered as pathogenic. Since no data were available from the parents of proband 20 and her sister, the inheritance pattern of the mutant allele and the wildtype alleles (paternal versus maternal) was not clear.