Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder

Multiple bone disorders due to mutations in the human noggin (NOG) causes a variety of phenotypes. Hearing impairment due to stapes ankylosis secondary to bony degeneration is also a feature of these syndromes. We describe the case of an individual in a Japanese family with conductive hearing loss d...

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Autores principales: Sonoyama, Toru, Ishino, Takashi, Ogawa, Yui, Oda, Takashi, Takeno, Sachio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10097708/
https://www.ncbi.nlm.nih.gov/pubmed/37045840
http://dx.doi.org/10.1038/s41439-023-00236-x
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author Sonoyama, Toru
Ishino, Takashi
Ogawa, Yui
Oda, Takashi
Takeno, Sachio
author_facet Sonoyama, Toru
Ishino, Takashi
Ogawa, Yui
Oda, Takashi
Takeno, Sachio
author_sort Sonoyama, Toru
collection PubMed
description Multiple bone disorders due to mutations in the human noggin (NOG) causes a variety of phenotypes. Hearing impairment due to stapes ankylosis secondary to bony degeneration is also a feature of these syndromes. We describe the case of an individual in a Japanese family with conductive hearing loss due to stapes ankylosis and hyperopia and dactylosymphysis. We revealed a novel NOG mutation, NM_005450.6:c.222 C > A / p.Tyr74*, and confirmed genetic significance.
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spelling pubmed-100977082023-04-14 Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder Sonoyama, Toru Ishino, Takashi Ogawa, Yui Oda, Takashi Takeno, Sachio Hum Genome Var Data Report Multiple bone disorders due to mutations in the human noggin (NOG) causes a variety of phenotypes. Hearing impairment due to stapes ankylosis secondary to bony degeneration is also a feature of these syndromes. We describe the case of an individual in a Japanese family with conductive hearing loss due to stapes ankylosis and hyperopia and dactylosymphysis. We revealed a novel NOG mutation, NM_005450.6:c.222 C > A / p.Tyr74*, and confirmed genetic significance. Nature Publishing Group UK 2023-04-13 /pmc/articles/PMC10097708/ /pubmed/37045840 http://dx.doi.org/10.1038/s41439-023-00236-x Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Sonoyama, Toru
Ishino, Takashi
Ogawa, Yui
Oda, Takashi
Takeno, Sachio
Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
title Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
title_full Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
title_fullStr Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
title_full_unstemmed Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
title_short Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
title_sort identification of a novel nonsense nog mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10097708/
https://www.ncbi.nlm.nih.gov/pubmed/37045840
http://dx.doi.org/10.1038/s41439-023-00236-x
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