Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3.
OBJECTIVE
To study a family with inner ear malformations and sensorineural hearing loss.


METHODS
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.


CONCLUSIONS
A familial Mondini dysplasia is associated to a microdeletion at the deafness locus DFN3.
Arellano
B
B
Servicio de ORL, Clínica Puerta de Hierro, C/San Martín de Porres, 4, 28035 Madrid, Spain. barellanor@seorl.org
Ramírez Camacho
R
R
García Berrocal
J R
JR
Villamar
M
M
del Castillo
I
I
Moreno
F
F
D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D007758:Ear, Inner / Q000002:abnormalities*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D014057:Tomography, X-Ray Computed; D014960:X Chromosome