Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction.

Autor: Macklin SK; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA., Bruno KA; Research Administration, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Internal Medicine & Department of Cardiovascular Diseases, Mayo Clinic, Jacksonville, FL 32224, USA., Vadlamudi C; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA., Helmi H; Research Administration, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Transplant and Critical Care, Mayo Clinic, Jacksonville, FL 32224, USA., Samreen A; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA., Mohammad AN; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA., Hines S; Department of Internal Medicine & Department of Cardiovascular Diseases, Mayo Clinic, Jacksonville, FL 32224, USA., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA., Caulfield TR; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Transplant and Critical Care, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Cancer Biology, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL 32224, USA.
Jazyk: angličtina
Zdroj: Case reports in medicine [Case Rep Med] 2020 Jun 19; Vol. 2020, pp. 5108052. Date of Electronic Publication: 2020 Jun 19 (Print Publication: 2020).
DOI: 10.1155/2020/5108052
Abstrakt: We describe the phenotype of a patient with extensive aortic, carotid, and abdominal dissections. The proband was found to have a heterozygous deletion of exons 21-34 in MYLK , which is a rare finding, as deletions in this gene have been infrequently reported. We describe this finding following detection in a proband with an extensive history of aortic, carotid, and abdominal dissections. Neoteric molecular modeling techniques to help determine the impact of this deletion on protein function indicated loss of function due to lack of any kinase domain. We also provide the electrostatics calculations from the wild type and mutant variant. Through a combined multiomic approach of clinical, functional, and protein informatics, we arrive at a data fusion for determination of pathogenicity embedded within the genetic code for this particular genetic variant, which, as a platform, continues to broaden its scope across the field of variants of uncertain significance classification.
Competing Interests: The authors declare that there are no conflicts of interest regarding this publication.
(Copyright © 2020 Sarah K. Macklin et al.)
Databáze: MEDLINE
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