Figure 4: Absence of heterozygosity mediates mutational burden at more than one locus.
From: Phenotypic expansion illuminates multilocus pathogenic variation
(a) Pedigree structure of family HOU1857 and segregation of variants identified in C12orf65 and GPR126. (b) Both siblings had esotropia, progressive sensorimotor polyneuropathy with impaired walking and resultant contractures and deformities in their extremities. (c) B-allele frequency calculated from exome variant data demonstrates several regions of absence of heterozygosity (AOH) within chromosome 6, marked by gray zones. Variants in GPR126 (red line) are located in a region of AOH. (d) B-allele frequency calculated from exome variant data demonstrates several regions of AOH within chromosome 12, marked by gray zones. Variants in C12ORF65 (red line) are located in a region of AOH.
