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

Autor:	Sonoyama, Toru, Ishino, Takashi, Ogawa, Yui, Oda, Takashi, Takeno, Sachio
Předmět:	NONSENSE mutation ANKYLOSIS CONDUCTIVE hearing loss HEARING disorders HYPEROPIA IDENTIFICATION
Zdroj:	Human Genome Variation; 4/13/2023, Vol. 10 Issue 1, p1-4, 4p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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