WES identified a recessively inherited splice variant in PDZD7 (c.226 + 2_226 + 5delTAGG) likely to explain the NSHL phenotype, which was confirmed through mRNA analysis to inhibit gene expression in affected individuals, as no PDZD7 exons were amplified. This evidence concerns the gene PDZD7 and nodular sclerosis classical Hodgkin lymphoma.