[Clinical study of a single congenital stapes malformation with possible X-linked dominant inheritance].
OBJECTIVE
To study the etiology of one Chinese pedigree with familial conductive deafness which was demonstrated involvement of X-linked dominant inheritance.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Zhang
Guiru
G
Department of Otolaryngology-Head and Neck Surgery, the First-Hospital of Jilin University, Changchun, 130021, China. sunlight8@21cn.com
Sun
Le
L
Wang
Xiaoming
X
Wang
Haitao
H
Zhang
Baolin
B
Jin
Hui
H
Wang
Hairu
H
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013199:Stapes / Q000002:abnormalities*; D055815:Young Adult