Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease

K Janssens; R Gershoni-Baruch; N Guañabens; N Migone; S Ralston; M Bonduelle; W Lissens; L Van Maldergem; F Vanhoenacker; L Verbruggen; W Van Hul

doi:10.1038/81563

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease

Nat Genet. 2000 Nov;26(3):273-5. doi: 10.1038/81563.

Authors

K Janssens¹, R Gershoni-Baruch, N Guañabens, N Migone, S Ralston, M Bonduelle, W Lissens, L Van Maldergem, F Vanhoenacker, L Verbruggen, W Van Hul

Affiliation

¹ Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

PMID: 11062463
DOI: 10.1038/81563

Abstract

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare, sclerosing bone dysplasia inherited in an autosomal dominant manner. Recently, the gene causing CED has been assigned to the chromosomal region 19q13 (refs 1-3). Because this region contains the gene encoding transforming growth factor-beta 1 (TGFB1), an important mediator of bone remodelling, we evaluated TGFB1 as a candidate gene for causing CED.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Bone Remodeling / genetics
Camurati-Engelmann Syndrome / genetics*
Chromosomes, Human, Pair 19 / genetics*
DNA Mutational Analysis
Genes, Dominant
Humans
Osteogenesis / genetics
Peptide Fragments / genetics*
Peptide Fragments / metabolism
Protein Precursors / genetics*
Protein Precursors / metabolism
Protein Processing, Post-Translational
Protein Sorting Signals / genetics*
Protein Transport / genetics
Transforming Growth Factor beta / biosynthesis*
Transforming Growth Factor beta / genetics
Transforming Growth Factor beta1

Substances

Peptide Fragments
Protein Precursors
Protein Sorting Signals
TGFB1 protein, human
Transforming Growth Factor beta
Transforming Growth Factor beta1