Abstract | BACKGROUND: METHODS AND RESULTS: A total of 18 patients suspected of having MFS were recruited and 7 were diagnosed with MFS and mutations in FBN1. Among the remaining 11 patients, 1 patient had mutations in TGFBR1, 2 had mutations in TGFBR2, and 1 had mutations in COL3A1. The clinical manifestations of the 3 patients with TGFBR gene mutations were examined according to the list of 36 clinical features described in the first report by Loeys et al. The clinical manifestations of these 3 patients differed from those previously observed in patients with MFS2, Furlong syndrome, and Shprintzen-Goldberg syndrome. Thus, the most probable diagnosis of these 3 patients was LDS, despite the fact that they presented with only a fraction of the 36 clinical features associated with LDS. CONCLUSIONS: Although the number of the patients was limited, the findings support the notion that mutations in the TGFBR gene may be associated with greater phenotypic heterogeneity than previously reported.
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Authors | Koichi Akutsu, Hiroko Morisaki, Satoshi Takeshita, Shingo Sakamoto, Yuiichi Tamori, Tsuyoshi Yoshimuta, Naoyuki Yokoyama, Hiroshi Nonogi, Hitoshi Ogino, Takayuki Morisaki |
Journal | Circulation journal : official journal of the Japanese Circulation Society
(Circ J)
Vol. 71
Issue 8
Pg. 1305-9
(Aug 2007)
ISSN: 1346-9843 [Print] Japan |
PMID | 17652900
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- COL3A1 protein, human
- Collagen Type III
- FBN1 protein, human
- Fibrillin-1
- Fibrillins
- Microfilament Proteins
- Receptors, Transforming Growth Factor beta
- Protein Serine-Threonine Kinases
- Receptor, Transforming Growth Factor-beta Type I
- Receptor, Transforming Growth Factor-beta Type II
- TGFBR1 protein, human
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Topics |
- Adult
- Collagen Type III
(genetics)
- Connective Tissue Diseases
(diagnosis, genetics)
- DNA Mutational Analysis
- Female
- Fibrillin-1
- Fibrillins
- Humans
- Male
- Marfan Syndrome
(diagnosis, genetics)
- Microfilament Proteins
(genetics)
- Mutation
- Phenotype
- Protein Serine-Threonine Kinases
(genetics)
- Receptor, Transforming Growth Factor-beta Type I
- Receptor, Transforming Growth Factor-beta Type II
- Receptors, Transforming Growth Factor beta
(genetics)
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