在一名患有镫骨固定和近端指间关节融合谱系障碍的患者中鉴定出一种新的无义NOG突变。

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

作者信息

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

机构信息

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.

出版信息

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

DOI:10.1038/s41439-023-00236-x

PMID:37045840

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10097708/

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.

摘要

人类骨形态发生蛋白拮抗剂（NOG）基因突变导致的多种骨骼疾病会引发多种表型。继发于骨质退变的镫骨强直所导致的听力障碍也是这些综合征的一个特征。我们描述了一个日本家庭中一名因镫骨强直、远视和并指畸形而患有传导性听力损失的个体病例。我们发现了一种新的NOG基因突变，即NM_005450.6:c.222 C > A / p.Tyr74*，并证实了其遗传学意义。