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.

Details

Title
Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
Author
Sonoyama, Toru 1   VIAFID ORCID Logo  ; Ishino, Takashi 1 ; Ogawa, Yui 1 ; Oda, Takashi 1 ; Takeno, Sachio 1   VIAFID ORCID Logo 

1  Hiroshima University, Department of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Biomedical & Health Sciences, Hiroshima City, Japan (GRID:grid.257022.0) (ISNI:0000 0000 8711 3200) 
Pages
12
Publication year
2023
Publication date
2023
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-023-00236-x
ProQuest document ID
2799931567
Copyright
© The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.