A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It is associated with loss-of-function mutations in the WISP3 gene. We describe two sisters suffering from PPD in whom molecular genetic analysis revealed a homozygous...

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Autores principales: Neerinckx, Barbara, Thues, Cedric, Wouters, Carine, Lechner, Sarah, Westhovens, Rene, Van Esch, Hilde
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785582/
https://www.ncbi.nlm.nih.gov/pubmed/27081554
http://dx.doi.org/10.1038/hgv.2015.49
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author Neerinckx, Barbara
Thues, Cedric
Wouters, Carine
Lechner, Sarah
Westhovens, Rene
Van Esch, Hilde
author_facet Neerinckx, Barbara
Thues, Cedric
Wouters, Carine
Lechner, Sarah
Westhovens, Rene
Van Esch, Hilde
author_sort Neerinckx, Barbara
collection PubMed
description Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It is associated with loss-of-function mutations in the WISP3 gene. We describe two sisters suffering from PPD in whom molecular genetic analysis revealed a homozygous deletion of exon 1 and of the 5′UTR of the WISP3 gene. This is the first time that a gross deletion has been described as the causal mutation in PPD.
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spelling pubmed-47855822016-04-14 A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings Neerinckx, Barbara Thues, Cedric Wouters, Carine Lechner, Sarah Westhovens, Rene Van Esch, Hilde Hum Genome Var Data Report Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It is associated with loss-of-function mutations in the WISP3 gene. We describe two sisters suffering from PPD in whom molecular genetic analysis revealed a homozygous deletion of exon 1 and of the 5′UTR of the WISP3 gene. This is the first time that a gross deletion has been described as the causal mutation in PPD. Nature Publishing Group 2015-12-03 /pmc/articles/PMC4785582/ /pubmed/27081554 http://dx.doi.org/10.1038/hgv.2015.49 Text en Copyright © 2015 Official journal of the Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Neerinckx, Barbara
Thues, Cedric
Wouters, Carine
Lechner, Sarah
Westhovens, Rene
Van Esch, Hilde
A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
title A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
title_full A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
title_fullStr A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
title_full_unstemmed A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
title_short A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
title_sort homozygous deletion of exon 1 in wisp3 causes progressive pseudorheumatoid dysplasia in two siblings
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785582/
https://www.ncbi.nlm.nih.gov/pubmed/27081554
http://dx.doi.org/10.1038/hgv.2015.49
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