Approximately half of gene lesions responsible for human inherited diseases are due to an amino acid substitution, showing that this mutational mechanism plays a large role in diseases. Distinguishing neutral sequence variations from those responsible for the phenotype is of major interest in human
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly
β Scribed by Akira Nishimura; Haruya Sakai; Shiro Ikegawa; Hiroshi Kitoh; Nobuyuki Haga; Satoshi Ishikiriyama; Toshiro Nagai; Fumio Takada; Takako Ohata; Fumihiko Tanaka; Hotaka Kamasaki; Hirotomo Saitsu; Takeshi Mizuguchi; Naomichi Matsumoto
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 88 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS. CCA and MFS result from mutations in highly similar genes, FBN2 and FBN1, res
Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS). In addition, dominant TGFBR2 mutations have been identified in Marfan syndrome type 2 (MFS2) and familial
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder characterized by manifestations in the cardiovascular, skeletal, ocular, and other organ systems. MFS type1 (MFS1) is caused by mutations in the gene encoding fibrillin (FBN1). Recently, the transforming growth factor-beta rec
TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected