Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction
Joint Authors
Helmi, Haytham
Atwal, Paldeep S.
Caulfield, Thomas R.
Vadlamudi, Charitha
Macklin, Sarah K.
Samreen, Ayesha
Bruno, Katelyn A.
Mohammad, Ahmed N.
Hines, Stephanie L.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-06-22
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Macklin, Sarah K.& Bruno, Katelyn A.& Vadlamudi, Charitha& Helmi, Haytham& Samreen, Ayesha& Mohammad, Ahmed N.…[et al.]. 2020. 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،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1148505
Modern Language Association (MLA)
Macklin, Sarah K.…[et al.]. 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 No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1148505
American Medical Association (AMA)
Macklin, Sarah K.& Bruno, Katelyn A.& Vadlamudi, Charitha& Helmi, Haytham& Samreen, Ayesha& Mohammad, Ahmed N.…[et al.]. 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. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1148505
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148505