%0 Generic %A M.L., Thibodeau %A M., Steinraths %A L., Brown %A Z., Zong %A N., Shomer %A S., Taubert %A K.L., Mungall %A Y.P., Ma %A R., Mueller %A I., Birol %A A., Lehman %D 2017 %T Supplementary Material for: Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98 %U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Genomic_and_Cytogenetic_Characterization_of_a_Balanced_Translocation_Disrupting_NUP98/5363560 %R 10.6084/m9.figshare.5363560.v1 %2 https://karger.figshare.com/ndownloader/files/9217936 %2 https://karger.figshare.com/ndownloader/files/9217939 %2 https://karger.figshare.com/ndownloader/files/9217942 %2 https://karger.figshare.com/ndownloader/files/9217945 %2 https://karger.figshare.com/ndownloader/files/9217948 %2 https://karger.figshare.com/ndownloader/files/9217951 %2 https://karger.figshare.com/ndownloader/files/9217954 %2 https://karger.figshare.com/ndownloader/files/9217957 %K Balanced translocation %K Pseudogene %K Renal angiomyolipomas %K Tuberous sclerosis %K Whole-genome sequencing %X 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 NUP98 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. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 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 TDG gene. We identified a TDGP1 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 NUP98 that occurred in a generally healthy woman with bilateral renal AML. %I Karger Publishers