Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2002 Feb;39(2):98-104.
doi: 10.1136/jmg.39.2.98.

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

P Debeer  1 , E F P M Schoenmakers, W O Twal, W S Argraves, L De Smet, J P Fryns, W J M Van De Ven
Affiliations

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

P Debeer et al. J Med Genet. 2002 Feb.

Abstract

Molecular analysis of the reciprocal chromosomal translocation t(12;22)(p11.2;q13.3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene (FBLN1 located in 22q13.3) and the C12orf2 (HoJ-1) gene on the short arm of chromosome 12. Investigation of the possible functional involvement of the fibulin-1 protein (FBLN1) in the observed phenotype showed that FBLN1 is expressed in the extracellular matrix (ECM) in association with the digits in the developing limb. Furthermore, fibroblasts derived from patients with the complex type of synpolydactyly displayed alterations in the level of FBLN1-D splice variant incorporated into the ECM and secreted into the conditioned culture medium. By contrast, the expression of the FBLN1-C splice variant was not perturbed in the patient fibroblasts. Based on these findings, we propose that the t(12;22) results in haploinsufficiency of the FBLN1-D variant, which could lead to the observed limb malformations.

PubMed Disclaimer

References

    1. Eur J Biochem. 1993 Aug 1;215(3):733-40 - PubMed
    1. Genomics. 1992 Oct;14(2):309-19 - PubMed
    1. Cytogenet Cell Genet. 1995;68(3-4):192-3 - PubMed
    1. J Mol Biol. 1995 Jan 20;245(3):241-50 - PubMed
    1. J Histochem Cytochem. 1995 Apr;43(4):401-11 - PubMed

Publication types