鉴定一种新的无义NOG突变患者与镫骨强直和神经节谱系障碍。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2023-04-13 DOI:10.1038/s41439-023-00236-x

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

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摘要

由人类脑蛋白(NOG)突变引起的多种骨疾病引起各种表型。继发于骨变性的镫骨强直引起的听力损害也是这些综合征的一个特征。我们描述的情况下，个人在一个日本家庭传导性听力损失，由于镫骨强直，远视和食指联合。我们发现了一个新的NOG突变，NM_005450.6:c。222 C > A / p.Tyr74*，并证实了遗传意义。

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

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.

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