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Case Reports
. 2000 Sep;126(9):1065-9.
doi: 10.1001/archotol.126.9.1065.

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

B Arellano  1 , R Ramírez Camacho, J R García Berrocal, M Villamar, I del Castillo, F Moreno
Affiliations
Case Reports

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

B Arellano et al. Arch Otolaryngol Head Neck Surg. 2000 Sep.

Abstract

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.

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