Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3
Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3
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DOI：
10.1001/archotol.126.9.1065
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发表时间：
2000-09-01
影响因子：
--
通讯作者：
Moreno, F
中科院分区：
文献类型：
--
作者：
Arellano, B;Camacho, RR;Moreno, F
目的：研究一个内耳畸形和感音神经性听力损失的家庭，设计：临床，放射学和遗传学研究的一个家庭的成员与不同程度的感音神经性hearingloss.Results：在家庭中的男性表现出严重的先天性听力损失与严重的内耳畸形，而唯一受影响的女性进行性听力损失，已开始在青春期。计算机断层扫描显示两名男性内耳畸形，内听道扩大和Mondini发育不良。遗传学分析揭示了X染色体上DFN3位点的微缺失。结论：家族性Mondini发育不良与耳聋DFN3位点的微缺失有关。
Objective: To study a family with inner ear malformations and sensorineural hearing loss.Design: Clinical, radiological, and genetic study of the members of a family with different degrees of sensorineural hearing loss.Results: The males in the family manifested profound congenital hearing loss with severe inner ear malformations, while the only affected female had progressive hearing loss that had begun during puberty. Computed tomography showed inner ear malformations in both males, with enlarged internal auditory meatus and Mondini dysplasia. Genetic analysis disclosed a microdeletion at the locus DFN3 on chromosome X.Conclusion: A familial Mondini dysplasia is associated to a microdeletion at the deafness locus DFN3.