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

Toru Sonoyama; Takashi Ishino; Yui Ogawa; Takashi Oda; Sachio Takeno

doi:10.1038/s41439-023-00236-x

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

Hum Genome Var. 2023 Apr 13;10(1):12. doi: 10.1038/s41439-023-00236-x.

Authors

Toru Sonoyama¹, Takashi Ishino², Yui Ogawa², Takashi Oda², Sachio Takeno²

Affiliations

¹ Department of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Biomedical & Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima City, Hiroshima, 734-8551, Japan. sono33@hiroshima-u.ac.jp.
² Department of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Biomedical & Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima City, Hiroshima, 734-8551, Japan.

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.