LEGENDS OF FIGURES
Figure 1. Rare germline interrupted duplication identified at
14q23.2 in Patient 2. The Y axis shows the copy number values in log2
and the X axis shows probes plotted according to genomic coordinates.
The duplicated regions are highlighted in purple in the graph, with
positive log2 values. Blue bars (top of the figure) show the
localization of the duplication at 14q23.2.
Figure 2. Germline missense variants detected by exome analysis
in Patients 1 and 2 and validated by Sanger Sequencing. Different rare
variants were identified in the CYP1A1 gene in A. Patient 1
(c.1390C>A) and B. Patient 2 (c.877C>G); C.CEP164 variant detected in Patient 2 (c.1429C>T).
Figure 3. Main observations . Specific phenotypes and associated
genes presenting rare germline coding non-synonymous variants in
Patients 1 and 2. Hepatoblastoma and Hirschsprung disease are shared
phenotypes between the patients, and CYP1A1 is the only gene with
rare variants detected in both patients. The phenotype and related gene
are linked by color. The genes associated to more than one phenotype are
marked with an asterisk of the color of the second associated phenotype.