10.6084/m9.figshare.5363560.v1 Thibodeau M.L. Thibodeau M.L. Steinraths M. Steinraths M. Brown L. Brown L. Zong Z. Zong Z. Shomer N. Shomer N. Taubert S. Taubert S. Mungall K.L. Mungall K.L. Ma Y.P. Ma Y.P. Mueller R. Mueller R. Birol I. Birol I. Lehman A. Lehman A. Supplementary Material for: Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98 Karger Publishers 2017 Balanced translocation Pseudogene Renal angiomyolipomas Tuberous sclerosis Whole-genome sequencing 2017-08-31 11:58:27 Dataset https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Genomic_and_Cytogenetic_Characterization_of_a_Balanced_Translocation_Disrupting_NUP98/5363560 A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the <i>NUP98 </i>gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. <i>NUP98</i> has not yet been associated with renal AML pathogenesis, but somatic <i>NUP98</i> alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the <i>TDG</i> gene. We identified a <i>TDGP1</i> partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting <i>NUP98</i> that occurred in a generally healthy woman with bilateral renal AML.