Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
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RESEARCH ARTICLE
Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation Rong Yu , Hongqun Jiang, Huihuang Liao and Wugen Luo*
Abstract Background: The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. Methods: In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them. Results: The sequencing analysis indicated that in the proband, the NOG gene had a c.532T > C, p.C178R (cytosine deletion, NM_005450.6:c.532T > C), leading to an amino acid change. The proband’s father, grandmother, second sister, and third sister also had this mutation, whereas family members with normal phenotypes did not have the mutation. Conclusion: Analysis of this family showed that the novel presentation of the c.532T > C, p.C178R mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis. Keywords: Gene, Deafness, Stapes sclerosis Background Conductive deafness is a type of hearing loss caused by lesions in the outer and middle ear. The passage of external sound waves into the inner ear is obstructed by pathological factors affecting the sound transmission system in the ear. Congenital causes are common malformation of the outer ear, hypoplasia of the tympanum, malformation of the ossicular chain, familial otosclerosis, etc. Acquired causes are commonly seen in external auditory canal obstruction by cerumen, foreign bodies, inflammation, scars, tumours, etc., or by tympanic membrane trauma, perforation, thickening and adhesion, middle ear *Correspondence: [email protected] Department of ENT, First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi, People’s Republic of China
effusion or pus, cholesteatoma, fracture of the auditory chain, ear sclerosis, tumour, etc. Stapes ankylosis is rare but can cause early conductive deafness [1–4]. It is difficult to differentiate from the common aetiology of conductive deafness and otosclerosis and is often overlooked, delaying treatment. Stapes ankylosis may be associated with skeletal dysplasia, such as osteogenesis imperfecta type I (OMIM 166200) [5–7]. Skeletal dysplasia is a common congenital malformation and a common phenotype in many inherited disorders. Abnormal bone and joint development are the most common congenital malformations. Mutations in the NOG gene (OMIM 602991) on chromosome 17q21–q22 can lead to multiple autosomal dominant genetic diseases. The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein
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