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

doi:10.1038/ng.2348

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Article

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

Nature genetics - 8 Jul 2012

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

Abstract excerpt

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...

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PMID: 22772371
DOI: 10.1038/ng.2348
PMCID: PMC4033668

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TGFB2

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