Suzanne de Bruijn

106 Chapter 3.1 W02-016 40 41 ? 40 17 M/+ +/+ +/+ M/+ M/+ M/+ +/+ 1 2 4 8 9 1 2 4 5 5 4 3 2 1 I III IV II 53 3 8 7 16 +/+ 9 36 +/+ 6 ? M/+ 11 11 41 +/+ 12 10 10 9 8 7 6 +/+ +/+ +/+ M/+ +/+ M/+ 58 56 35 35 27 32 29 2 3 M/+ M/+ 1 5 6 M/+ 47 W04-262 1 2 3 I III IV II 2 1 2 3 1 85 51 55 58 +/+ +/+ +/+ +/+ 49 M/+ 4 55 M/+ 5 6 4 3 M/+ +/+ ? 23 49 M/+ 7 8 6 5 +/+ 29 +/+ +/+ 32 4 5 55 +/+ 9 10 8 7 +/+ 19 +/+ +/+ 22 32 M/+ 11 10 12 13 11 9 10 12 14 +/+ +/+ +/+ 42 +/+ +/+ 6 7 14 49 M/+ 8 9 13 15 16 14 12 19 19 +/+ +/+ +/+ 25 +/+ M/+ 17 43 +/+ 28 M/+ 18 19 16 15 +/+ 14 +/+ +/+ 17 29 +/+ 20 10 11 <18 W08-1421 1 2 I III IV II 2 32 3 4 4 5 M/+ 32 1 3 4 0 M/+ 2 32 1 3 2 M/+ PS 32 1 2 1 M/+ 0* V 5 3 4 35 M/+ 2 32 1 PS M/+ 49 +/+ 1 +/+ 2 3 4 5 M/+ 38 50 M/+ 6 7 60 49 +/+ 6 M/+ 7 8 9 10 30 M/+ 33 M/+ 11 45 +/+ 50 43 M/+ M/+ 8 9 10 +/+ 1 2 W15-0495 W18-0470 1 2 I III II 2 32 3 4 5 32 1 2 3 1 M/+ 6 M/+ 11 30 M/+ W18-1004 1 2 12 M/+ 1 M/+ 4 W18-0471 20 M/+ W18-0472 27 M/+ W18-0473 39 M/+ W18-1005 25 M/+ W18-1160 12 M/+ Figure 2. Family pedigrees and segregation of RIPOR2 variant c.1696_1707del. For affected and unaffected family members, the age of onset of hearing loss or the age at the most recent audiometric evaluation are indicated in the pedigree symbols, respectively. Subjects who did not report an age of onset are indicated with a question mark. Index cases are marked by arrows. Exome sequencing was performed in subjects with an underlined genotype. Subjects determined to be affected by heteroanamnesis are indicated with a vertical black bar. Based on the information provided in the questionnaires, an autosomal dominant inheritance pattern of hearing loss is likely for each of the single cases. M, c.1696_1707del; +, wildtype; PS, primary school.