FBN2

(redirected from fibrillin-2)

FBN2

A gene on chromosome 5q23-q31 that encodes fibrillin 2, a member of the fibrillin family of glycoproteins, which is a component of connective tissue microfibrils and involved in elastic fibre assembly.

Molecular pathology
FBN2 mutations cause congenital contractural arachnodactyly.

Mentioned in ?

congenital contractural arachnodactyly

References in periodicals archive ?

Starcher, "Fibrillin-2 defects impair elastic fiber assembly in a homocysteinemic chick model," The Journal of Nutrition, vol.

Plasma and Aorta Biochemistry and MMPs Activities in Female Rabbit Fed Methionine Enriched Diet and Their Offspring

Various genes related to malignant development have been investigated in the tissue and bodily fluids of colorectal cancer patients including Fibrillin-2 (FBN2), MAL, septin 9 (SEPT9), tachykinin-1 (TAC1), nel-like type 1 (NELL1), cellular retinoic acid binding protein 1 (CRABP1), somatostatin (SST), eyes absent homolog 4 (EYA4), and Vimentin (VIM) [59, 61, 62].

DNA Methylation as a Noninvasive Epigenetic Biomarker for the Detection of Cancer

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

Case report of unusual presentation of marfanoid features in a 13-year-old boy with Gardner's syndrome

Syndactyly was found both in mice lacking laminin alpha-5 chain gene and in mice null for fibrillin-2 gene.

Case Report of Bilateral 3-4 Metatarsal Syndactyly in a Pet Rabbit

For example, the fibrillin-2 gene (FBN2; MIM 121050) on human chromosome 5q23-q31 shares a high degree of homology with FBN1 (Mizuguchi and Matsumoto, 2007).

Fibrillin 3 Gene Mutation in Chinese Patients with Marfan Syndrome

Familial occurrence of typical and severe lethal congenital contractural arachnodactyl caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet 1996;59:1027-34.

Beals Hecht syndrome-arthrogryposis multiplex congenita-congenital arachnodactyly: case report/Beals Hecht sendromu-artrogripozis multipleks-kongenital araknodaktili: olgu sunumu

Beals syndrome has distinct features, however, and is caused by a mutation in the fibrillin-2 gene (FBN2) in 5q23; Marfan syndrome is caused by mutations in fibrillin-1 [2-4].

A rare presentation of Beals syndrome; a newly recognized connective tissue disorder

Fibrillins belong to the extracellular matrix proteins, which include 3 fibrillin isoforms (fibrillin-1, fibrillin-2, and fibrillin-3) and the latent transforming growth factor [beta]-binding proteins.