Fig. 2: Mutational load in BBS-related genes.
From: Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
a Distribution of BBS families according to the molecular screening and mutational load. Families are grouped as “digenic triallelic” (three mutant alleles in two recessive genes) and “monogenic biallelic” (two mutant alleles in a recessive gene). NGS includes customized targeted NGS panel, clinical exome sequencing (CES), and/or whole-exome sequencing (WES). b Mutational load and gene role in the allelic combination. The genes found in the “digenic triallelic” families are grouped considering if they are primary (recessive biallelic gene) or secondary (monoallelic modifier) genes. c Distribution of the oligogenic cases according to the primary and secondary genes found in the 23 families with suspected triallelic inheritance. Only the genetic outcome of each proband is shown. The inner and outer circles represent the biallelic primary gene and the monoallelic gene (or possible modifier) accompanying the biallelic variants, respectively.
