TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-08

AUTHORS

Catherine Boileau, Dong-Chuan Guo, Nadine Hanna, Ellen S Regalado, Delphine Detaint, Limin Gong, Mathilde Varret, Siddharth K Prakash, Alexander H Li, Hyacintha d'Indy, Alan C Braverman, Bernard Grandchamp, Callie S Kwartler, Laurent Gouya, Regie Lyn P Santos-Cortez, Marianne Abifadel, Suzanne M Leal, Christine Muti, Jay Shendure, Marie-Sylvie Gross, Mark J Rieder, Alec Vahanian, Deborah A Nickerson, Jean Baptiste Michel, Heart Lung and Blood Institute Go Exome Sequencing Project, Guillaume Jondeau, Dianna M Milewicz

ABSTRACT

A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease followed by whole-exome sequencing of affected relatives identified causative mutations in TGFB2. These mutations-a frameshift mutation in exon 6 and a nonsense mutation in exon 4-segregated with disease with a combined logarithm of odds (LOD) score of 7.7. Sanger sequencing of 276 probands from families with inherited thoracic aortic disease identified 2 additional TGFB2 mutations. TGFB2 encodes transforming growth factor (TGF)-β2, and the mutations are predicted to cause haploinsufficiency for TGFB2; however, aortic tissue from cases paradoxically shows increased TGF-β2 expression and immunostaining. Thus, haploinsufficiency for TGFB2 predisposes to thoracic aortic disease, suggesting that the initial pathway driving disease is decreased cellular TGF-β2 levels leading to a secondary increase in TGF-β2 production in the diseased aorta. More... »

PAGES

916

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.2348

DOI

http://dx.doi.org/10.1038/ng.2348

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022834805

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22772371


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456 schema:name Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
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459 schema:name Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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463 Assistance Publique–Hôpitaux de Paris (AP-HP), Hôpital Bichat, Centre National de Référence pour les Syndromes de Marfan et Apparentés, Service de Cardiologie, Paris, France.
464 Institut National de la Santé et de la Recherche Médicale (INSERM) U698, Hôpital Bichat, Paris, France.
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482 Institut National de la Santé et de la Recherche Médicale (INSERM) U698, Hôpital Bichat, Paris, France.
483 Unité de Formation et de Recherche (UFR) de Médecine, Université Paris 7, Paris, France.
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