Abstract: The present invention relates to methods for the diagnosis and the treatment of familial thoracic aortic aneurysms caused by TGFB2 loss of function mutations. More particularly, the present invention relates to a method for determining whether a subject is predisposed to thoracic aortic aneurysms comprising detecting a TGFB2 loss of function mutation wherein the presence of the mutation indicated that the subject is predisposed to thoracic aortic aneurysms. The present invention also relates to a transforming growth factor beta-2 (TGF-?2) polypeptide for use in the prophylactic treatment of a subject who has been considered as predisposed to thoracic aortic aneurysms by the method of the invention (i.e. a subject having one TGB2 loss of function mutation according to the invention).

Abstract: The purpose of this invention is to provide a probe for diagnosis of Marfan syndrome, which enables early diagnosis of Marfan syndrome, and to provide a method for screening using said probe. The invention is a probe for a Marfan Syndrome characterized by using a nucleic acid comprising following (a) or (b); (a) a nucleic acid comprising a base sequence represented by base numbers 1-180000 shown in SEQ ID No. 1 of the sequence listing, or (b) a nucleic acid in which a part of the base sequence of said base numbers 1-180000 is deleted, substituted or added, and having 80% homology with said base sequence.

Abstract: The purpose of this invention is to provide a probe for diagnosis of Marfan syndrome, which enables early diagnosis of Marfan syndrome, and to provide a method for screening using said probe. The invention is a probe for a Marfan Syndrome characterized by using a nucleic acid comprising following (a) or (b); (a) a nucleic acid comprising a base sequence represented by base numbers 1-180000 shown in SEQ ID No. 1 of the sequence listing, or (b) a nucleic acid in which a part of the base sequence of said base numbers 1-180000 is deleted, substituted or added, and having 80% homology with said base sequence.