Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3

被引：24
作者：
Arellano, B
Camacho, RR
Berrocal, JRG
Villamar, M
del Castillo, I
Moreno, F
机构：
[1] Clin Puerta Hierro, Serv ORL, Madrid 28035, Spain
[2] Hosp Ramon y Cajal, Unidad Genet Mol, E-28034 Madrid, Spain
来源：
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY | 2000年 / 126卷 / 09期
关键词：
D O I：
10.1001/archotol.126.9.1065
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
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.
引用
收藏
页码：1065 / 1069
页数：5
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