Targeted next-generation sequencing facilitates genetic diagnosis and provides novel pathogenetic insights into deafness with enlarged vestibular aqueduct

Publication date: Available online 28 September 2018Source: The Journal of Molecular DiagnosticsAuthor(s): Yin-Hung Lin, Chen-Chi Wu, Yi-Hsin Lin, Ying-Chang Lu, Chih-Shan Chen, Tien-Chen Liu, Pei-Lung Chen, Chuan-Jen HsuABSTRACTEnlarged vestibular aqueduct (EVA) is an inner ear malformation associated with sensorineural hearing impairment. The majority of EVA are associated with Pendred syndrome and non-syndromic DFNB4, two autosomal recessive disorders caused by mutations in SLC26A4. However, a significant percentage of EVA patients cannot have confirmed diagnosis by screening common SLC26A4 mutations, constituting an enigma in genetic diagnosis. To enable comprehensive genetic examination and explore the etiologies of EVA, we designed a next-generation sequencing panel targeting the ent...

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