Figure 2.

Pedigree of the family, segregation study, and AOH regions. A, Pedigree of the family. Black filled boxes indicate affected individuals. Individual identification numbers are written in the left column starting with BAB. B, Sanger chromatographs of the entire family for segregation analyses. Affected individuals have homozygous mutation whereas unaffected individuals are heterozygous or wild type, which is consistent with Mendelian recessive expectations. C, AOH study based on data culled from WES. Gray shaded areas indicate AOH regions. Note that the GPR161 mutation is located in the ∼7.2 Mb block of AOH region in both affecteds, but not in the unaffected sibling.