Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder-Reference-Cited by-同舟云学术

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

Published:2023-04-13 Issue:1 Volume:10 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Sonoyama Toru^ORCID,Ishino Takashi,Ogawa Yui,Oda Takashi,Takeno Sachio^ORCID

Abstract

AbstractMultiple 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.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-023-00236-x.pdf

Reference21 articles.

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