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Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98.
- Source :
- Cytogenetic & Genome Research; Oct2017, Vol. 152 Issue 3, p117-121, 5p, 1 Diagram
- Publication Year :
- 2017
-
Abstract
- 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;q 15). 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 11 p 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 12p 12.1, 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- GENOMICS
TUBEROUS sclerosis
GENETIC testing
GENES
HUMAN genome
Subjects
Details
- Language :
- English
- ISSN :
- 14248581
- Volume :
- 152
- Issue :
- 3
- Database :
- Complementary Index
- Journal :
- Cytogenetic & Genome Research
- Publication Type :
- Academic Journal
- Accession number :
- 125529198
- Full Text :
- https://doi.org/10.1159/000479463