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

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.

• Authors: 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
• Journal: Nature genetics (Nat Genet) Vol. 26 Issue 3 Pg. 273-5 (Nov 2000) ISSN: 1061-4036 [Print] United States
• PMID: 11062463 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

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