Familial aortic disease and a large duplication in chromosome 16p13.1
Background and purpose A recurrent duplication of chromosome 16p13.1 was associated with aortic dissection as well as with cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease. Methods Whole exome sequencing (WES) analysis was performed...
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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
14 February 2018
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| In: |
Molecular genetics & genomic medicine
Year: 2018, Volume: 6, Issue: 3, Pages: 441-445 |
| ISSN: | 2324-9269 |
| DOI: | 10.1002/mgg3.371 |
| Online Access: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1002/mgg3.371 Verlag, kostenfrei, Volltext: https://www.onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.371 
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| Author Notes: | Philipp Erhart, Tobias Brandt, Beate K. Straub, Ingrid Hausser, Sabine Hentze, Dittmar Böckler, Caspar Grond-Ginsbach |
| Summary: | Background and purpose A recurrent duplication of chromosome 16p13.1 was associated with aortic dissection as well as with cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease. Methods Whole exome sequencing (WES) analysis was performed in a patient with a family history of aortic diseases and ischemic stroke due to an aortic dissection extending into both carotid arteries. Results The index patient, his affected father, and an affected sister of his father carried a large duplication of region 16p13.1, which was also verified by quantitative PCR. The duplication was also found in clinically asymptomatic sister of the index patient. WES did not detect pathogenic variants in a predefined panel of 11 genes associated with aortic disease, but identified rare deleterious variants in 14 genes that cosegregated with the aortic phenotype. Conclusions The cosegregation of duplication 16p13.1 with the aortic phenotype in this family suggested a causal relationship between the duplication and aortic disease. Variants in known candidate genes were excluded as disease-causing in this family, but cosegregating variants in other genes might modify the contribution of duplication 16p13.1 on aortic disease. |
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| Item Description: | Gesehen am 20.04.2018 |
| Physical Description: | Online Resource |
| ISSN: | 2324-9269 |
| DOI: | 10.1002/mgg3.371 |