Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction
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 detec...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2020/5108052 |
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| author | Sarah K. Macklin Katelyn A. Bruno Charitha Vadlamudi Haytham Helmi Ayesha Samreen Ahmed N. Mohammad Stephanie Hines Paldeep S. Atwal Thomas R. Caulfield |
| author_facet | Sarah K. Macklin Katelyn A. Bruno Charitha Vadlamudi Haytham Helmi Ayesha Samreen Ahmed N. Mohammad Stephanie Hines Paldeep S. Atwal Thomas R. Caulfield |
| author_sort | Sarah K. Macklin |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-0888aed61dc54bf58e1edee6718d328c |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-0888aed61dc54bf58e1edee6718d328c2025-02-03T05:53:54ZengWileyCase Reports in Medicine1687-96271687-96352020-01-01202010.1155/2020/51080525108052Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic DysfunctionSarah K. Macklin0Katelyn A. Bruno1Charitha Vadlamudi2Haytham Helmi3Ayesha Samreen4Ahmed N. Mohammad5Stephanie Hines6Paldeep S. Atwal7Thomas R. Caulfield8Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USAResearch Administration, Mayo Clinic, Jacksonville, FL 32224, USADepartment of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USAResearch Administration, Mayo Clinic, Jacksonville, FL 32224, USADepartment of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USADepartment of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USADepartment of Internal Medicine & Department of Cardiovascular Diseases, Mayo Clinic, Jacksonville, FL 32224, USADepartment of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USADepartment of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USAWe 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.http://dx.doi.org/10.1155/2020/5108052 |
| spellingShingle | Sarah K. Macklin Katelyn A. Bruno Charitha Vadlamudi Haytham Helmi Ayesha Samreen Ahmed N. Mohammad Stephanie Hines Paldeep S. Atwal Thomas R. Caulfield Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction Case Reports in Medicine |
| title | Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction |
| title_full | Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction |
| title_fullStr | Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction |
| title_full_unstemmed | Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction |
| title_short | Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction |
| title_sort | examination of molecular effects of mylk deletion in a patient with extensive aortic carotid and abdominal dissections that underlie the genetic dysfunction |
| url | http://dx.doi.org/10.1155/2020/5108052 |
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