Vilder EYD, Vanakker OM. From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders. World J Clin Cases 2015; 3(7): 556-574 [PMID: 26244149 DOI: 10.12998/wjcc.v3.i7.556]
Corresponding Author of This Article
Vanakker M Olivier, MD, PhD, Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, East Flanders, Belgium. olivier.vanakker@ugent.be
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Review
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jul 16, 2015; 3(7): 556-574 Published online Jul 16, 2015. doi: 10.12998/wjcc.v3.i7.556
From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders
Eva YG De Vilder, Olivier M Vanakker
Eva YG De Vilder, Olivier M Vanakker, Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, East Flanders, Belgium
Eva YG De Vilder, Department of Ophthalmology, Ghent University Hospital, B-9000 Ghent, East Flanders, Belgium
Author contributions: De Vilder EYG wrote the paper; Vanakker OM edited the paper.
Supported by The Research Foundation Flanders (FWO) (FWO14/ASP/084), Vanakker OM is a senior clinical investigator at the Fund for Scientific Research-Flanders; Contract grant sponsor: FWO grant No G.0241.11N and Methusalem grant No. 08/01M01108.
Conflict-of-interest statement: The authors declare no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Vanakker M Olivier, MD, PhD, Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, East Flanders, Belgium. olivier.vanakker@ugent.be
Telephone: +32-9-3323603 Fax: +32-9-3324970
Received: November 29, 2014 Peer-review started: November 29, 2014 First decision: February 7, 2015 Revised: February 27, 2015 Accepted: May 16, 2015 Article in press: May 18, 2015 Published online: July 16, 2015 Processing time: 240 Days and 13.3 Hours
Core Tip
Core tip: Ectopic mineralization disorders represent a broad range of phenotypically heterogenous diseases, often leading to significant morbidity and mortality. Involving a complex interplay between different pro-osteogenic mediators and inhibitors of calcification, the mechanisms of ectopic mineralization are progressively being unveiled. Though current knowledge is beyond any doubt the tip of the proverbial iceberg, insights already have significant implications in the diagnosis and daily management of these patients. As such, ectopic mineralization diseases are a fine example of translating variome data to the clinic. Here, we will discuss prototype hereditary ectopic calcification diseases with respect to their presentation, diagnosis and management.
