Fig. 1.

Flowchart describing variant filtering process. Only the variants with familial segregation were selected (32,413), and filtered according to their minor allele frequency (MAF) < 0.05 (3,829 variants). Exonic/splicing variants potentially related to the POI phenotype were annotated manually (excluding synonymous and non-coding variants), resulting in 76 variants. Finally, we retained 23 variants with a potentially deleterious effect on the protein