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: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2023-04-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-023-00236-x |
| _version_ | 1797355854962360320 |
|---|---|
| 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 |
| work_keys_str_mv | AT torusonoyama identificationofanovelnonsensenogmutationinapatientwithstapesankylosisandsymphalangismspectrumdisorder AT takashiishino identificationofanovelnonsensenogmutationinapatientwithstapesankylosisandsymphalangismspectrumdisorder AT yuiogawa identificationofanovelnonsensenogmutationinapatientwithstapesankylosisandsymphalangismspectrumdisorder AT takashioda identificationofanovelnonsensenogmutationinapatientwithstapesankylosisandsymphalangismspectrumdisorder AT sachiotakeno identificationofanovelnonsensenogmutationinapatientwithstapesankylosisandsymphalangismspectrumdisorder |