| Autor: |
Hodge, Katelyn, Spoonamore, Katherine G., Griffith, Christopher B., Weaver, David D., Celestino-Soper, Patricia B. S., Lynnes, Ty C., Hongyu Gao, Yunlong Liu, Vatta, Matteo |
| Předmět: |
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| Zdroj: |
Cardiogenetics; 2015, Vol. 5 Issue 1, p13-16, 4p |
| Abstrakt: |
We report on the process of post mortem evaluation and genetic testing following the death of a 25-year-old man due to ascending aortic dissection leading to aortic rupture. Following the negative clinical testing of a 12- gene thoracic aortic aneurysm and dissection panel, research testing revealed a novel c.5732A>T (p.E1911V) variant in exon 34 of the MYLK gene (NM-053025). Two likely pathogenic variants in this gene have been reported previously in individuals with familial thoracic aortic aneurysm and dissection. Given the unclear clinical consequence of the variant found in our proband, we have classified this change as a variant of uncertain significance. In addition to discussing the complexity involved in variant interpretation, we recognize the need for additional research for more accurate MYLK interpretation. Finally, we comment on the unique challenges of post mortem genetic testing. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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