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A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
Umea Univ, Ctr Heart, Dept Surg & Perioperat Sci, S-90185 Umea, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab. Umea Univ, Med & Clin Genet, Dept Med Biosci, Umea, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2016 (English)In: BMC Medical Genetics, ISSN 1471-2350, E-ISSN 1471-2350, Vol. 17, 61Article in journal (Refereed) Published
Abstract [en]

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Place, publisher, year, edition, pages
2016. Vol. 17, 61
Keyword [en]
Thoracic aorta, Aortic dissection, Gene mutation, MYLK
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-305540DOI: 10.1186/s12881-016-0326-yISI: 000383335100001PubMedID: 27586135OAI: oai:DiVA.org:uu-305540DiVA: diva2:1039016
Available from: 2016-10-20 Created: 2016-10-19 Last updated: 2016-10-20Bibliographically approved

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Stattin, Eva-LenaKlar, JoakimAmeur, Adam
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Medicinsk genetik och genomikScience for Life Laboratory, SciLifeLabDepartment of Immunology, Genetics and Pathology
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