Results 161 to 170 of about 2,855 (182)

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly

Biochemical Genetics, 2023
AbstractCongenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by arachnodactyly, multiple joint contractures, progressive kyphoscoliosis, pectus deformity and abnormal crumpled ears. FBN2 is the only gene currently known to be associated with CCA.
Fengchang Qiao, Chunyu Luo, Qinxin Zhang   +2 more
exaly   +3 more sources

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Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes

European Journal of Medical Genetics, 2020
A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a Thai woman with combined clinical features of Marfan (MFS) and Beals (BS) syndromes including frontal bossing, enophthalmos, myopia ...
Chureerat, Phokaew, Rekwan, Sittiwangkul, Kanya, Suphapeetiporn, Vorasuk, Shotelersuk   +3 more
openaire   +2 more sources

Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm [PDF]

Journal of Human Genetics, 2003
We previously performed a genome-wide linkage study of intracranial aneurysm (IA) and found positive evidence of linkage at chromosomes 5q22-31, 7q11, and 14q22. In the present study, we focus on 5q31, where three candidate genes, fibroblast growth factor 1 (FGF1), fibrillin 2 (FBN2), and lysyl oxidase gene ( LOX) lie, and evaluate associations with IA.
Hiroyuki Akagawa, Hidetoshi Kasuya, Hideaki Onda   +2 more
exaly   +3 more sources

Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly

Nature Genetics, 1995
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome (MFS) and characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears. In contrast to MFS, CCA does not affect the aorta or the eyes.
Francesco Ramirez, Dianna Milewicz
exaly   +3 more sources

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Journal of Pediatric Genetics, 2015
Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis.
Virendra, Mehar, Dinesh, Yadav, Ravindra, Kumar, Summi, Yadav, Kuldeep, Singh, Bert, Callewaert, Shahnawaz, Pathan, Anne, De Paepe, Paul J, Coucke   +8 more
openaire   +3 more sources

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells

Genetics in Medicine
FBN2, a high-confidence effector gene for osteoarthritis (OA), was investigated for its potential role in synostosis of joints (SJ) because several OA-related genes are known to cause SJ.We analyzed variants in OA-related genes using exome sequencing data from Chinese-Han participants with radioulnar synostosis (RUS). Variants were classified following
Yu Zheng, Yongjia Yang, Guanghui Zhu
exaly   +3 more sources

Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus

European Journal of Medical Genetics, 2018
We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing.
Shagun Aggarwal, Aneek Das Bhowmik, Ashwani Tandon, Ashwin Dalal   +3 more
openaire   +2 more sources

A Novel Mutation (C1425Y) in the FBN2 Gene in a Father and Son with Congenital Contractural Arachnodactyly

Genetic Testing and Molecular Biomarkers, 2009
Congenital contractural arachnodactyly (Beals syndrome) is a rare autosomal dominantly inherited connective tissue disorder characterized by flexion contractures, arachnodactyly, crumpled ears, and mild muscular hypoplasia. Here, a father and son with congenital contractural arachnodactyly features were identified. After sequencing
Ying, Chen, Yun-Ping, Lei, Hong-Xiang, Zheng, Wei, Wang, Hong-Bo, Cheng, Jing, Zhang, Hong-Yan, Wang, Li, Jin, Hong, Li   +8 more
openaire   +2 more sources

Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome

Mammalian Genome, 1994
The fibrillin genes, FBN1 and FBN2, encode large extracellular matrix glycoproteins involved in the structure and function of microfibrils. Mutations in FBN1 are found in patients with Marfan syndrome, a heritable connective tissue disease that primarily affects the cardiovascular, ocular, and skeletal systems. We extended the studies of these genes by
C, Goldstein, P, Liaw, S A, Jimenez, A M, Buchberg, L D, Siracusa   +4 more
openaire   +2 more sources

Thoracic Aortic Disease in Patients with Heterozygous Variants in FBN2

The Thoracic and Cardiovascular Surgeon, 2022
T. J. Demal, M. Sachse, H. Schüler, H. Reichenspurner, M. Kutsche, K. Szöcs, V. Stark, J. Olfe, M. Rybczynski, S. Renner, K. Kutsche, C. Kubisch, T. S. Mir, Y. Von Kodolitsch, C. Detter, G. Rosenberger   +15 more
openaire   +1 more source