Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had differ...

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Autores principales: Ichihashi, Yosuke, Takagi, Masaki, Ishii, Tomohiro, Watanabe, Kenji, Nishimura, Gen, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993830/
https://www.ncbi.nlm.nih.gov/pubmed/29899997
http://dx.doi.org/10.1038/s41439-018-0012-z
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author Ichihashi, Yosuke
Takagi, Masaki
Ishii, Tomohiro
Watanabe, Kenji
Nishimura, Gen
Hasegawa, Tomonobu
author_facet Ichihashi, Yosuke
Takagi, Masaki
Ishii, Tomohiro
Watanabe, Kenji
Nishimura, Gen
Hasegawa, Tomonobu
author_sort Ichihashi, Yosuke
collection PubMed
description Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED.
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spelling pubmed-59938302018-06-13 Two novel mutations of COMP in Japanese boys with pseudoachondroplasia Ichihashi, Yosuke Takagi, Masaki Ishii, Tomohiro Watanabe, Kenji Nishimura, Gen Hasegawa, Tomonobu Hum Genome Var Data Report Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED. Nature Publishing Group UK 2018-06-08 /pmc/articles/PMC5993830/ /pubmed/29899997 http://dx.doi.org/10.1038/s41439-018-0012-z Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Ichihashi, Yosuke
Takagi, Masaki
Ishii, Tomohiro
Watanabe, Kenji
Nishimura, Gen
Hasegawa, Tomonobu
Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
title Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
title_full Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
title_fullStr Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
title_full_unstemmed Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
title_short Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
title_sort two novel mutations of comp in japanese boys with pseudoachondroplasia
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993830/
https://www.ncbi.nlm.nih.gov/pubmed/29899997
http://dx.doi.org/10.1038/s41439-018-0012-z
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