WISP3 mutation associated with pseudorheumatoid dysplasia

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-e...

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Autores principales: Sailani, M. Reza, Chappell, James, Jingga, Inlora, Narasimha, Anil, Zia, Amin, Lynch, Janet Linnea, Mazrouei, Safoura, Bernstein, Jonathan A., Aryani, Omid, Snyder, Michael P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793776/
https://www.ncbi.nlm.nih.gov/pubmed/29092958
http://dx.doi.org/10.1101/mcs.a001990
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author Sailani, M. Reza
Chappell, James
Jingga, Inlora
Narasimha, Anil
Zia, Amin
Lynch, Janet Linnea
Mazrouei, Safoura
Bernstein, Jonathan A.
Aryani, Omid
Snyder, Michael P.
author_facet Sailani, M. Reza
Chappell, James
Jingga, Inlora
Narasimha, Anil
Zia, Amin
Lynch, Janet Linnea
Mazrouei, Safoura
Bernstein, Jonathan A.
Aryani, Omid
Snyder, Michael P.
author_sort Sailani, M. Reza
collection PubMed
description 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.
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spelling pubmed-57937762018-02-05 WISP3 mutation associated with pseudorheumatoid dysplasia Sailani, M. Reza Chappell, James Jingga, Inlora Narasimha, Anil Zia, Amin Lynch, Janet Linnea Mazrouei, Safoura Bernstein, Jonathan A. Aryani, Omid Snyder, Michael P. Cold Spring Harb Mol Case Stud Research Report 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. Cold Spring Harbor Laboratory Press 2018-02 /pmc/articles/PMC5793776/ /pubmed/29092958 http://dx.doi.org/10.1101/mcs.a001990 Text en © 2018 Sailani et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Research Report
Sailani, M. Reza
Chappell, James
Jingga, Inlora
Narasimha, Anil
Zia, Amin
Lynch, Janet Linnea
Mazrouei, Safoura
Bernstein, Jonathan A.
Aryani, Omid
Snyder, Michael P.
WISP3 mutation associated with pseudorheumatoid dysplasia
title WISP3 mutation associated with pseudorheumatoid dysplasia
title_full WISP3 mutation associated with pseudorheumatoid dysplasia
title_fullStr WISP3 mutation associated with pseudorheumatoid dysplasia
title_full_unstemmed WISP3 mutation associated with pseudorheumatoid dysplasia
title_short WISP3 mutation associated with pseudorheumatoid dysplasia
title_sort wisp3 mutation associated with pseudorheumatoid dysplasia
topic Research Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793776/
https://www.ncbi.nlm.nih.gov/pubmed/29092958
http://dx.doi.org/10.1101/mcs.a001990
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