Figure 1. Genetic testing results. A: Pedigree of the family under study. All the members were recruited for whole exome analysis. Mutation status of C2orf71 is shown under the symbols for each subject (+/−, heterozygous carriers). B: Sanger sequencing confirmation: Chromatographs obtained with Sanger sequencing for all family members. The arrow indicates the frameshift start. Sanger sequencing that identified the mutation c.1804_1805delAG was performed using a reverse primer.