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A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

Overview of attention for article published in BMC Medical Genetics, September 2016
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Title
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
Published in
BMC Medical Genetics, September 2016
DOI 10.1186/s12881-016-0326-y
Pubmed ID
Authors

Matias Hannuksela, Eva-Lena Stattin, Joakim Klar, Adam Ameur, Bengt Johansson, Karen Sörensen, Bo Carlberg

Abstract

Mutations in MYLK cause non-syndromic familial thoracic aortic aneurysms and dissections (FTAAD). Very little is known about the phenotype of affected families. We sought to characterize the aortic disease and the presence of other vascular abnormalities in FTAAD caused by a deletion in MYLK and to compare thoracic aortic diameter and stiffness in mutation carriers and non-carriers. We studied FTAAD in a 5-generation family that included 19 living members. Exome sequencing was performed to identify the underlying gene defect. Aortic elastic properties measured by TTE, MRI and pulse wave velocity were then compared between mutation carriers and non-carriers. Exome sequencing led to the identification of a 2-bp deletion in MYLK (c3272_3273del, p.Ser1091*) that led to a premature stop codon and nonsense-mediated decay. Eleven people were mutation carriers and eight people were non-carriers. Five aortic ruptures or dissections occurred in this family, with two survivors. There were no differences in aortic diameter or stiffness between carriers and non-carriers of the mutation. Individuals carrying this deletion in MYLK have a high risk of presenting with an acute aortic dissection or rupture. Aortic events occur over a wide range of ages and are not always preceded by obvious aortic dilatation. Aortic elastic properties do not differ between carriers and non-carriers of this mutation, rendering it uncertain whether and when carriers should undergo elective prophylactic surgery.

Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Sweden 1 7%
Unknown 13 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 29%
Other 2 14%
Professor > Associate Professor 2 14%
Professor 1 7%
Student > Ph. D. Student 1 7%
Other 2 14%
Unknown 2 14%
Readers by discipline Count As %
Medicine and Dentistry 4 29%
Agricultural and Biological Sciences 4 29%
Biochemistry, Genetics and Molecular Biology 1 7%
Pharmacology, Toxicology and Pharmaceutical Science 1 7%
Unknown 4 29%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 September 2017.
All research outputs
#10,366,056
of 11,691,744 outputs
Outputs from BMC Medical Genetics
#556
of 694 outputs
Outputs of similar age
#222,655
of 263,837 outputs
Outputs of similar age from BMC Medical Genetics
#9
of 9 outputs
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