Results 181 to 190 of about 10,344 (220)

Severe Marfan syndrome due to FBN1 exon deletions

American Journal of Medical Genetics Part A, 2008
AbstractMarfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin‐1 gene (FBN1). The majority of these are family‐specific point mutations, with a small number being predicted to cause exon‐skipping.
Blyth, M., Foulds, N., Turner, C., Bunyan, D.   +3 more
openaire   +4 more sources

Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database

Human Mutation, 2003
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to harbor mutations related
Gwenaelle Collod-Béroud, Leena Ala-Kokko, M Boxer   +2 more
exaly   +1 more source

Comprehensive molecular screening of theFBN1gene favors locus homogeneity of classical Marfan syndrome

Human Mutation, 2004
In order to estimate the contribution of mutations at the fibrillin,1 locus (FBN1) to classical Marfan syndrome (MFS) and to study possible phenotypic differences between patients with an FBN1 mutation vs.
Bart Loeys, Julie De Backer, Gérard Pals   +2 more
exaly   +2 more sources

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Genes, 2021
Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1.
Katalin Komlosi, Andreas Tzschach, Sabine Jägle   +2 more
exaly   +2 more sources

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Ectopia lentis phenotypes and the FBN1 gene

American Journal of Medical Genetics Part A, 2003
AbstractMutations of the fibrillin‐1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the “MASS” phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373–2378], familial ...
Lesley C, Adès, Katherine J, Holman, Maggie S, Brett, Matthew J, Edwards, Bruce, Bennetts   +4 more
openaire   +2 more sources

The FBN1 (R2726W) mutation is not fully penetrant

Annals of Human Genetics, 2004
SummaryThe R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature. Here we report a family in which two out of four individuals, an 18‐year‐old son and his mother, a 41‐year‐old woman, had the R2726W mutation of FBN1.
S, Buoni, R, Zannolli, F, Macucci, S, Ansaldi, M, Grasso, E, Arbustini, A, Fois   +6 more
openaire   +2 more sources

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations

Clinical Genetics, 2008
Fibrillin‐1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission. Major clinical manifestations affect cardiovascular and skeletal apparatuses and ocular and central nervous systems.
ATTANASIO, MONICA, I. Lapini, EVANGELISTI, LUCIA, LUCARINI, LAURA, GIUSTI, BETTI, PORCIANI, MARIA CRISTINA, R. Fattori, C. Anichini, ABBATE, ROSANNA, GENSINI, GIAN FRANCO, PEPE, GUGLIELMINA   +10 more
openaire   +3 more sources

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

Molecular Genetics & Genomic Medicine, 2019
BACKGROUND: Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused
Eline Overwater, , Phillis Lakeman
exaly   +2 more sources

Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies

The Indian Journal of Pediatrics, 2009
The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene.
Chia-Hua, Chiu, Joseph, Thakuria, Pankaj B, Agrawal   +2 more
openaire   +2 more sources

[Analysis of FBN1 genemutations in a pedigree with Marfan syndrome].

Zhonghua yi xue za zhi, 2022
Mutations in fibrillin-1 (FBN1) were detected in an autosomal dominant Marfan syndrome (MFS) pedigree. The related phenotypes and the significance of mutation screening were discussed. Complete medical and cardiovascular examinations for all pedigree members were performed.
Q, Zheng, K L, Li, G L, Dai, D, Xiong, M Y, Yao, X, Chen, Y M, Li, Y Y, Zhang, H R, Li, Y, Cao   +9 more
openaire   +1 more source