WISP3  mutation associated with pseudorheumatoid dysplasia

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Abstract

Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the WISP3 gene, leading to diagnosis of PPD in the affected individuals. The identified variant (Chr6: 112382301; WISP3:c.156C>A p.Cys52*) is rare and predicted to cause premature termination of the WISP3 protein.

Most cited references 42

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The CCN family of proteins: structure–function relationships

Kenneth P. Holbourn, K. Ravi Acharya, Bernard Perbal (2008)

The CCN proteins are key signalling and regulatory molecules involved in many vital biological functions, including cell proliferation, angiogenesis, tumourigenesis and wound healing. How these proteins influence such a range of functions remains incompletely understood but is probably related to their discrete modular nature and a complex array of intra- and inter-molecular interactions with a variety of regulatory proteins and ligands. Although certain aspects of their biology can be attributed to the four individual modules that constitute the CCN proteins, recent results suggest that some of their biological functions require cooperation between modules. Indeed, the modular structure of CCN proteins provides important insight into their structure–function relationships.

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The modular architecture of a new family of growth regulators related to connective tissue growth factor.

P. Bork (1993)

Recently, several groups have characterized and sequenced members of a new family of growth regulators (originally called cef10, connective tissue growth factor, fisp-12, cyr61, or, alternatively, beta IG-M1 and beta IG-M2), all of which belong to immediate-early genes expressed after induction by growth factors or certain oncogenes. Sequence analysis of this family revealed the presence of four distinct modules. Each module has homologues in other extracellular mosaic proteins such as Von Willebrand factor, slit, thrombospondins, fibrillar collagens, IGF-binding proteins and mucins. Classification and analysis of these modules suggests the location of binding regions and, by analogy to better characterized modules in other proteins, sheds some light onto the structure of this new family.

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Notch signaling in chondrocytes modulates endochondral ossification and osteoarthritis development.

Yoko Hosaka, Taku Saito, Shurei Sugita … (2013)

Here we examined the involvement of Notch signaling in the endochondral ossification process, which is crucial for osteoarthritis (OA) development. Intracellular domains of Notch1 and -2 were translocated into the nucleus of chondrocytes with their differentiation in mouse limb cartilage and in mouse and human OA articular cartilage. A tissue-specific inactivation of the Notch transcriptional effector recombination signal binding protein for Ig kappa J (RBPjκ) in chondroprogenitor cells of SRY-box containing gene 9 (Sox9)-Cre;Rbpj(fl/fl) mouse embryos caused an impaired terminal stage of endochondral ossification in the limb cartilage. The RBPjκ inactivation in adult articular cartilage after normal skeletal growth using type II collagen (Col2a1)-Cre(ERT);Rbpj(fl/fl) mice by tamoxifen injection caused resistance to OA development in the knee joint. Notch intracellular domain with the effector RBPjκ stimulated endochondral ossification through induction of the target gene Hes1 in chondrocytes. Among the Notch ligands, Jagged1 was strongly induced during OA development. Finally, intraarticular injection of N-[N-(3,5-diflurophenylacetate)-L-alanyl]-(S)-phenylglycine t-butyl ester (DAPT), a small compound Notch inhibitor, to the mouse knee joint prevented OA development. The RBPjκ-dependent Notch signaling in chondrocytes modulates the terminal stage of endochondral ossification and OA development, representing an extracellular therapeutic target of OA.

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Author and article information

Journal

Journal ID (nlm-ta): Cold Spring Harb Mol Case Stud

Journal ID (iso-abbrev): Cold Spring Harb Mol Case Stud

Journal ID (hwp): cshmcs

Journal ID (pmc): cshmcs

Journal ID (publisher-id): cshmcs

Title: Cold Spring Harbor Molecular Case Studies

Publisher: Cold Spring Harbor Laboratory Press

ISSN (Electronic): 2373-2873

Publication date (Print): February 2018

Volume: 4

Issue: 1

Electronic Location Identifier: a001990

Affiliations

[1 ]Department of Genetics, Stanford University, Stanford, California 94304, USA;

[2 ]Clinic of Internal Medicine, Department of Cardiology, University Heart Center, Jena University Hospital, 07747 Jena, Germany;

[3 ]Department of Pediatrics, Stanford University, Stanford, California 94304, USA;

[4 ]Department of Neuroscience, Iran University of Medical Sciences, Tehran 1449614535, Iran;

[5 ]Endocrinology and Metabolic Research Institute, Tehran University of Medical Sciences, Tehran 1599666615, Iran

Author notes

Corresponding authors: mpsnyder@ 123456stanford.edu ; o_aryani@ 123456yahoo.com

Article

Medline ID: SailaniMCS001990

DOI: 10.1101/mcs.a001990

PMC ID: 5793776

PubMed ID: 29092958

SO-VID: e27c17ff-376f-408e-8909-c39f84272b5e

License:

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.

History

Date received : 12 March 2017

Date accepted : 28 September 2017

Page count

Pages: 11

Funding

Funded by: Swiss National Science Foundation (SNSF) , open-funder-registry 10.13039/100000001;

Funded by: National Institutes of Health (NIH) , open-funder-registry 10.13039/100000002;

WISP3 mutation associated with pseudorheumatoid dysplasia

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Abstract

Most cited references 42

The CCN family of proteins: structure–function relationships

The modular architecture of a new family of growth regulators related to connective tissue growth factor.

Notch signaling in chondrocytes modulates endochondral ossification and osteoarthritis development.

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