Fig. 3.

Pedigrees of families W16-0482, W22-1907 and W22-2757 and co-segregation of the identified IKZF2 variants with HL. The clinical status of the individuals is indicated by the filling of the symbols: black indicates that the subject has HL, and white indicates that the subject has no HL. The clinical status is based on audiograms in all subjects marked with an asterisk. A Family W16-0482. V: c.485A>C p.(His162Pro). Subjects II:1 and II:4 (marked with a hashtag) did have HL, but a significantly milder phenotype than other affected family members. The variant (V) was found to be de novo in II:2 (Supplemental Fig. 2). B Family W22-1907. V: c.509G>A p.(Cys170Tyr). C Family W22-2757. V: c.434G>T p.(Cys145Phe). + , wildtype; square, male; circle, female; slash through symbol, deceased; arrow, proband