Figure 3.

Segregation of C14orf2 variant. Two-generation pedigree (pedigree 2), with three affected female and two affected male siblings as well as an affected male half-sibling. The C14orf2 variant segregates to five of six affected children. Pedigree symbols are described in the legend for Figure 2. Sequence variants identified in the family are shown in the black boxes. A CNV found in the affected half-sibling [27] is shown in the red box. Odds ratios for variants observed in the case/control study are shown in parentheses. Variants with no odds ratio were observed only in high-risk families. All family members were tested for all variants unless no DNA was available. Individuals with no available DNA are indicated.