Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Marshall–Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshal...

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Autores principales: Guo, Long, Elcioglu, Nursel H, Wang, Zheng, Demirkol, Yasemin K, Isguven, Pinar, Matsumoto, Naomichi, Nishimura, Gen, Miyake, Noriko, Ikegawa, Shiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628180/
https://www.ncbi.nlm.nih.gov/pubmed/28983407
http://dx.doi.org/10.1038/hgv.2017.40
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author Guo, Long
Elcioglu, Nursel H
Wang, Zheng
Demirkol, Yasemin K
Isguven, Pinar
Matsumoto, Naomichi
Nishimura, Gen
Miyake, Noriko
Ikegawa, Shiro
author_facet Guo, Long
Elcioglu, Nursel H
Wang, Zheng
Demirkol, Yasemin K
Isguven, Pinar
Matsumoto, Naomichi
Nishimura, Gen
Miyake, Noriko
Ikegawa, Shiro
author_sort Guo, Long
collection PubMed
description Marshall–Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshall–Stickler syndrome using whole-exome sequencing and identified one COL2A1 mutation and three COL11A1 mutations. Two of the COL11A1 mutations were novel. Our findings expand our knowledge of the COL11A1 mutational spectrum that causes Marshall–Stickler syndrome.
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spelling pubmed-56281802017-10-05 Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum Guo, Long Elcioglu, Nursel H Wang, Zheng Demirkol, Yasemin K Isguven, Pinar Matsumoto, Naomichi Nishimura, Gen Miyake, Noriko Ikegawa, Shiro Hum Genome Var Data Report Marshall–Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshall–Stickler syndrome using whole-exome sequencing and identified one COL2A1 mutation and three COL11A1 mutations. Two of the COL11A1 mutations were novel. Our findings expand our knowledge of the COL11A1 mutational spectrum that causes Marshall–Stickler syndrome. Nature Publishing Group 2017-10-05 /pmc/articles/PMC5628180/ /pubmed/28983407 http://dx.doi.org/10.1038/hgv.2017.40 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 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-nd/4.0/
spellingShingle Data Report
Guo, Long
Elcioglu, Nursel H
Wang, Zheng
Demirkol, Yasemin K
Isguven, Pinar
Matsumoto, Naomichi
Nishimura, Gen
Miyake, Noriko
Ikegawa, Shiro
Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
title Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
title_full Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
title_fullStr Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
title_full_unstemmed Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
title_short Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
title_sort novel and recurrent col11a1 and col2a1 mutations in the marshall–stickler syndrome spectrum
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628180/
https://www.ncbi.nlm.nih.gov/pubmed/28983407
http://dx.doi.org/10.1038/hgv.2017.40
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