Ontology highlight
ABSTRACT:
SUBMITTER: Boileau C
PROVIDER: S-EPMC4033668 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Boileau Catherine C Guo Dong-Chuan DC Hanna Nadine N Regalado Ellen S ES Detaint Delphine D Gong Limin L Varret Mathilde M Prakash Siddharth K SK Li Alexander H AH d'Indy Hyacintha H Braverman Alan C AC Grandchamp Bernard B Kwartler Callie S CS Gouya Laurent L Santos-Cortez Regie Lyn P RL Abifadel Marianne M Leal Suzanne M SM Muti Christine C Shendure Jay J Gross Marie-Sylvie MS Rieder Mark J MJ Vahanian Alec A Nickerson Deborah A DA Michel Jean Baptiste JB Jondeau Guillaume G Milewicz Dianna M DM
Nature genetics 20120708 8
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 ...[more]