Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.

@article{Yang2005HearingLA,
  title={Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.},
  author={Jiann-jou Yang and Chin-Chu Tsai and Hsiu-Mei Hsu and Jiun-Yih Shiao and Ching-Chyuan Su and Shuan-yow Li},
  journal={Hearing research},
  year={2005},
  volume={199 1-2},
  pages={22-30}
}
Recessive mutations of PDS gene are the common causes of Pendred syndrome and non-syndromic hearing loss associated with temporal bone abnormalities ranging from isolated enlargement of the vestibular aqueduct (EVA) to Mondini dysplasia. In this study we evaluate the relationship between EVA and Mondini dysplasia in 10 prelingual deaf patients and PDS gene mutation. One of three mutations, IVS7-2A-->G, IVS16-6G-->A or IVS15+5G-->A, was identified in the PDS gene in each patient. In family… CONTINUE READING

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