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.
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.
Authors: Ahmet M Tekin; Marco Matulic; Wim Wuyts; Masoud Zoka Assadi; Griet Mertens; Vincent van Rompaey; Yongxin Li; Paul van de Heyning; Vedat Topsakal Journal: Genes (Basel) Date: 2021-04-21 Impact factor: 4.096
Authors: Guney Bademci; Akeem Lasisi; Kemal O Yariz; Paola Montenegro; Ibis Menendez; Rodrigo Vinueza; Rosario Paredes; Germania Moreta; Asli Subasioglu; Susan Blanton; Suat Fitoz; Armagan Incesulu; Levent Sennaroglu; Mustafa Tekin Journal: BMC Med Genet Date: 2015-02-25 Impact factor: 2.103