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Updated: Aug 14, 2026
Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
[Clinical study of a single congenital stapes malformation with possible X-linked dominant inheritance]
Guiru Zhang1, Le Sun, Xiaoming Wang
1Department of Otolaryngology-Head and Neck Surgery, the First-Hospital of Jilin University, Changchun, 130021, China. sunlight8@21cn.com
Objectives:
To study the etiology of one Chinese pedigree with familial conductive deafness which was demonstrated involvement of X-linked dominant inheritance.
Method:
History of illness, physical examinations, pure-tone audiometry and acoustic and immittance measurement were obtained from members of this family. Some subjects received computed tomography scan of the temporal bone. The proband accepted chromosome karyotype analysis and operation with artificial stapes prosthesis.
Result:
The patients had normal physical examinations. Pedigree analysis indicated that they distributed four continuous generations and the number of female patients was larger than that of male patients. Only female patients can transmit the mutant gene to their later generations. Their audiological evaluation showed conductive hearing loss and acoustic immittance measurement showed A form curve. Two of them who underwent high-resolution CT scan had normal inner structures. In the operation for proband, we found that her stapes which was flat cylinder shape lacking staple footplate. Furthermore, her chromosome showed 46, XX.
Conclusion:
Patients with characteristics of congenital non-syndrome stapes fixation were identified in one large Chinese family. Pedigree analysis suggested a possible X-linked dominant inheritance in this pedigree.
