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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
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2019 (Engelska)Ingår i: Genetics in Medicine, ISSN 1098-3600, E-ISSN 1530-0366, Vol. 21, nr 1, s. 144-151Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Purpose: Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLKmissense variants are pathogenic and information to guide aortic disease management are limited.

Methods: Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the effect of missense variants on kinase activity was assessed.

Results: Twenty-three individuals (39%) experienced an aortic event (defined as aneurysm repair or dissection); the majority of these events (87%) were aortic dissections. Aortic diameters were minimally enlarged at the time of dissection in many cases. Time-to-aortic-event curves showed that missense pathogenic variant (PV) carriers have earlier-onset aortic events than null PV carriers. An MYLK missense variant segregated with aortic disease over five generations but decreases MYLK kinase acitivity marginally. Functional Assays fail to identify all pathogenic variants in MYLK.

Conclusion: These data further define the aortic phenotype associated with MYLKpathogenic variants. Given minimal aortic enlargement before dissection, an alternative approach to guide the timing of aortic repair is proposed based on the probability of a dissection at a given age.

Ort, förlag, år, upplaga, sidor
Nature Publishing Group, 2019. Vol. 21, nr 1, s. 144-151
Nyckelord [en]
acute aortic dissection, hereditary thoracic aortic disease, MYLK, myosin light-chain kinase, thoracic aortic surgery
Nationell ämneskategori
Genetik
Identifikatorer
URN: urn:nbn:se:umu:diva-155775DOI: 10.1038/s41436-018-0038-0ISI: 000455403400020PubMedID: 29925964OAI: oai:DiVA.org:umu-155775DiVA, id: diva2:1283090
Forskningsfinansiär
NIH (National Institute of Health), RO1 HL109942NIH (National Institute of Health), P01HL110869-01Tillgänglig från: 2019-01-28 Skapad: 2019-01-28 Senast uppdaterad: 2019-01-28Bibliografiskt granskad

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Hannuksela, MatiasCarlberg, Bo

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Arnaud, PaulineLee, KwanghyukHannuksela, MatiasCarlberg, Bo
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Institutionen för kirurgisk och perioperativ vetenskapInstitutionen för folkhälsa och klinisk medicin
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Genetics in Medicine
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