Results 161 to 170 of about 2,722 (177)

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 M Milewicz, Ramirez Francesco   +2 more
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
Zhenqing Luo, Guanghui Zhu, Yongjia Yang   +2 more
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

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

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

Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2

Circulation: Genomic and Precision Medicine
BACKGROUND: Heterozygous pathogenic variants in the central region (exon 23–34) of FBN2 cause a hereditary connective tissue disorder named congenital contractural arachnodactyly, which presents with obligatory skeletal features but rarely with vascular manifestations.
Till Joscha Demal, Marco Sachse, Celia Metzlaff, Helke Schüler, Katalin Szöcs, Jakob Olfe, Veronika Stark, Peter Frommolt, Yskert von Kodolitsch, Thomas S. Mir, Meike Rybczynski, Hermann Reichenspurner, Kerstin Kutsche, Christian Kubisch, Christian Detter, Georg Rosenberger   +15 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

FBN2 methylation is detected in the serum of colorectal cancer patients with hepatic metastasis.

Anticancer research, 2013
For the purpose of colorectal cancer detection, we investigated fibrillin-2 (FBN2) methylation in the serum of colorectal cancer patients using quantitative methylation-specific polymerase chain reaction (qMSP).Out of 78 patients with colorectal cancer, 49 (63%) exhibited methylation of FBN2 in their tumor tissue DNA, suggesting that FBN2 methylation ...
Kenji, Hibi, Hiroki, Mizukami, Mitsuo, Saito, Gaku, Kigawa, Hiroshi, Nemoto, Yutaka, Sanada   +5 more
openaire   +1 more source

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly

Clinical Dysmorphology, 2018
Abdullah I, Gürler, Zafer, Yüksel, Kadri, Karaer   +2 more
openaire   +2 more sources