Figure 3: Absence of heterozygosity mediates mutational burden at a single locus.
From: Phenotypic expansion illuminates multilocus pathogenic variation
(a) Pedigree structure of family HOU1838 and segregation of the variants identified in AMPD2, AP4B1 and NOTCH2. (b) Images of proband (BAB4474) demonstrate narrow forehead, esotropia of the left eye, short nose and protruding tongue. (c) B-allele frequency calculated from exome variant data demonstrates several regions of absence of heterozygosity (AOH), marked by gray zones. Variants in AMPD2, AP4B1, and NOTCH2 are located within the same region of AOH. (d) Blended phenotypic features and associated syndromes are presented. ASD, atrial septal defect; DD/ID, developmental delay/intellectual disability.
