Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Fibrillin-2

The FBN2 gene encodes a component of connective tissue microfibrils. Mutations cause autosomal dominant congenital contractural arachnodactyly and early-onset macula degeneration.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital contractural arachnodactyly
FBN2
Early-onset macula degeneration
FBN2

References:

1.

Putnam EA et al. (1995) Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

external link
2.

Sampson MG et al. (2010) Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

external link
3.

Quondamatteo F et al. (2002) Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development.

external link
4.

Lin G et al. (2002) Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils.

external link
5.

Trask TM et al. (1999) N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly.

external link
6.

Babcock D et al. (1998) A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

external link
7.

Maslen C et al. (1997) A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

external link
8.

Li X et al. (1993) Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.

external link
9.

Wang M et al. (1995) Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

external link
10.

Ratnapriya R et al. (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

external link
11.

Belleh S et al. (2000) Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

external link
12.

Putnam EA et al. (1997) Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

external link
13.

Wang M et al. (1996) Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

external link
14.

Zhang H et al. (1994) Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.

external link
15.

Zhang H et al. (1995) Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.

external link
16.

Lee B et al. (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

external link
17.

NCBI article

NCBI 2201 external link
18.

OMIM.ORG article

Omim 612570 external link
19.

Orphanet article

Orphanet ID 121760 external link
20.

Wikipedia article

Wikipedia EN (Fibrillin) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues