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Novel SMAD3 p.Arg386Thr genetic variant co-segregating with thoracic aortic aneurysm and dissection
Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Health, Medicine and Caring Sciences, Division of Diagnostics and Specialist Medicine. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
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2020 (English)In: Molecular Genetics & Genomic Medicine, ISSN 2324-9269, article id e1089Article in journal (Refereed) Epub ahead of print
Abstract [en]

Background Pathogenic variants in the SMAD3 gene affecting the TGF-beta/SMAD3 signaling pathway with aortic vessel involvement cause Loeys-Dietz syndrome 3, also known as aneurysms-osteoarthritis syndrome. Methods Description of clinical history of a family in Sweden using clinical data, DNA sequencing, bioinformatics, and pedigree analysis. Results We report a novel SMAD3 variant, initially classified as a genetic variant of uncertain clinical significance (VUS), and later found to be co-segregating with aortic dissection in the family. The index patient presented with a dissecting aneurysm of the aorta including the ascending, descending, and abdominal parts. Genotype analysis revealed a heterozygous missense SMAD3 variant: NM_005902.3(SMAD3): c.11576G amp;gt; C (p.Arg386Thr). The same variant was also identified in a 30 years old formalin-fixed paraffin-embedded block of tissue from a second cousin, who died at 26 years of age from a dissecting aneurysm of the aorta. Conclusion A "variant of uncertain significance" according to the ACMG guidelines has always a scope for reappraisal. Genetic counselling to relatives, and the offering of surveillance service is important to families with aortic aneurysm disease. The report also highlight the potential use of FFPE analysis from deceased relatives to help in the interpretation of variants.

Place, publisher, year, edition, pages
WILEY , 2020. article id e1089
Keywords [en]
aortic aneurysm and dissection; Loeys-Dietz syndrome 3; SMAD3; TAAD
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:liu:diva-163705DOI: 10.1002/mgg3.1089ISI: 000511023800001PubMedID: 32022471OAI: oai:DiVA.org:liu-163705DiVA, id: diva2:1394321
Note

Funding Agencies|ALF Grants; Region Ostergotland; FORSS Medical Research Council of Southeast Sweden

Available from: 2020-02-18 Created: 2020-02-18 Last updated: 2020-03-12

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Engström, KarolinaVanky, FarkasRehnberg, MalinTrinks, CeciliaJonasson, JonGunnarsson, Cecilia
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