Suzanne de Bruijn

134 Chapter 3.1 SUPPLEMENTARY FIGURES W97-056 1 2 1 2a 2 10 10a 11 11a 12a 12 13 14a 14 15 15a 16 17 18a 18 39 38 35 34 33 32 29 28 27 26 25 24 23 22 21 20 20a 2 1 19 20a 20 3 3a 4 4a 5 5a 32 31 30 29 28 27 26a 26 25 24 23 22a 22 21a 21 40 41 42 43 44 45 46 50 51 I III IV V II III IV II M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ M2/+ M1/+ NT +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ M1/+ +/+ M1/+ +/+ M1/+ M2/+ M1/+ M2/+ +/+ M2/+ M1/+ +/+ M1/+ M2/+ M1/+ +/+ M1/+ +/+ +/+ +/+ +/+ M2/+ M1: RIPOR2 , c.1696_1707del, p.Gln566_Lys569del) M2: SPATS1 , c.419G>A, p.(Gly140Glu) +: wildtype Figure S1. Segregation analysis of the SPATS1 and RIPOR2 variants in W97-056. Subjects determined to be affected by heteroanamnesis are indicated with a vertical black line. The subject marked in grey is diagnosed with intellectual disability and excluded from further participation in this study. Subject identifiers correspond to those in de Brouwer et al., 2005. 17 Genotypes in green correspond to a co-occurrence of the variant and hearing impairment and those in red to lack of co- occurrence. NT, not tested.