RESEARCH ARTICLE
Buschke-Ollendorf Syndrome: Report of a Case and a Brief Molecular Overview
Michel van Geel1, 2, 3, Valerie L.R.M. Verstraeten1, 2, 3, G.P.H. Lucker2, Maurice A.M. van Steensel*, 1, 2, 3
Article Information
Identifiers and Pagination:
Year: 2008Volume: 2
First Page: 5
Last Page: 8
Publisher ID: TODJ-2-5
DOI: 10.2174/1874372200802010005
Article History:
Received Date: 19/12/2007Revision Received Date: 27/12/2007
Acceptance Date: 31/12/2007
Electronic publication date: 15/1/2008
Collection year: 2008
open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Buschke-Ollendorf syndrome (BOS) is a rare autosomal dominant disorder characterized by localized increases in bone density manifesting as osteopoikilosis or melorheostosis and connective tissue nevi, collagenomas. Manifestations are highly variable. It is caused by loss-of-function mutations in the LEMD3 gene, which codes for an inner nuclear membrane protein that is also known as MAN1. Six different mutations have been described to date without a clear genotype- phenotype correlation. Buschke-Ollendorf syndrome exemplifies the importance of TGFß signaling for bone and connective tissue homeostasis. Here, we report on a father and his daughter with typical BOS syndrome caused by a known nonsense mutation and provide an overview of what is now known of this rare disorder.
