Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
Abstract 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 heari...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
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Nature Publishing Group
2023-04-01
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Series: | Human Genome Variation |
Online Access: | https://doi.org/10.1038/s41439-023-00236-x |
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author | Toru Sonoyama Takashi Ishino Yui Ogawa Takashi Oda Sachio Takeno |
author_facet | Toru Sonoyama Takashi Ishino Yui Ogawa Takashi Oda Sachio Takeno |
author_sort | Toru Sonoyama |
collection | DOAJ |
description | Abstract 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. |
first_indexed | 2024-03-08T14:18:08Z |
format | Article |
id | doaj.art-5e7275dbc52f42538339eac83154ded5 |
institution | Directory Open Access Journal |
issn | 2054-345X |
language | English |
last_indexed | 2024-03-08T14:18:08Z |
publishDate | 2023-04-01 |
publisher | Nature Publishing Group |
record_format | Article |
series | Human Genome Variation |
spelling | doaj.art-5e7275dbc52f42538339eac83154ded52024-01-14T12:17:10ZengNature Publishing GroupHuman Genome Variation2054-345X2023-04-011011410.1038/s41439-023-00236-xIdentification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorderToru Sonoyama0Takashi Ishino1Yui Ogawa2Takashi Oda3Sachio Takeno4Department of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Biomedical & Health Sciences, Hiroshima UniversityDepartment of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Biomedical & Health Sciences, Hiroshima UniversityDepartment of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Biomedical & Health Sciences, Hiroshima UniversityDepartment of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Biomedical & Health Sciences, Hiroshima UniversityDepartment of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Biomedical & Health Sciences, Hiroshima UniversityAbstract 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.https://doi.org/10.1038/s41439-023-00236-x |
spellingShingle | Toru Sonoyama Takashi Ishino Yui Ogawa Takashi Oda Sachio Takeno Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder Human Genome Variation |
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 |
url | https://doi.org/10.1038/s41439-023-00236-x |
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