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Abstract
BackgroundThe 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.MethodsIn 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.ResultsThe 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.ConclusionAnalysis 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.
Highlights
The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein
The results showed that nearly 40 mutations in the NOG gene have been identified, most of which are missense mutations located in the evolutionarily conserved region
Congenital stapes ankylosis syndrome is difficult to distinguish from otosclerosis, the most common cause of conductive deafness, and is prone to delayed diagnosis
Summary
The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. Conductive deafness is a type of hearing loss caused by lesions in the outer and middle 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 Abnormal bone and joint development are the most common congenital malformations. The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein
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