Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We r...

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Autores principales: Okamoto, Nana, Kohmoto, Tomohiro, Naruto, Takuya, Masuda, Kiyoshi, Komori, Takahide, Imoto, Issei
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/PMC5559424/
https://www.ncbi.nlm.nih.gov/pubmed/28819563
http://dx.doi.org/10.1038/hgv.2017.36
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author Okamoto, Nana
Kohmoto, Tomohiro
Naruto, Takuya
Masuda, Kiyoshi
Komori, Takahide
Imoto, Issei
author_facet Okamoto, Nana
Kohmoto, Tomohiro
Naruto, Takuya
Masuda, Kiyoshi
Komori, Takahide
Imoto, Issei
author_sort Okamoto, Nana
collection PubMed
description Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.
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spelling pubmed-55594242017-08-17 Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis Okamoto, Nana Kohmoto, Tomohiro Naruto, Takuya Masuda, Kiyoshi Komori, Takahide Imoto, Issei Hum Genome Var Data Report Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis. Nature Publishing Group 2017-08-17 /pmc/articles/PMC5559424/ /pubmed/28819563 http://dx.doi.org/10.1038/hgv.2017.36 Text en Copyright © 2017 The Author(s) 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
Okamoto, Nana
Kohmoto, Tomohiro
Naruto, Takuya
Masuda, Kiyoshi
Komori, Takahide
Imoto, Issei
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
title Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
title_full Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
title_fullStr Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
title_full_unstemmed Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
title_short Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
title_sort novel clcn7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559424/
https://www.ncbi.nlm.nih.gov/pubmed/28819563
http://dx.doi.org/10.1038/hgv.2017.36
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