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. 2019 Feb 7;9:1604. doi: 10.1038/s41598-018-38245-4

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Overview of three-step protocol for genetic analysis. Our entire cohort comprises eighty-seven patients with severe-to-profound non-syndromic hearing loss (HL group) and 117 normal participants (control group). In the first step, a total of eleven subjects are identified to have causative pathogenic mutations. The second step of Sanger sequencing for GJB2 does not additionally elucidate other GJB2 pathogenic variants than the ones already screened through the first step. Next, massive parallel sequencing is performed for 55 patients of the HL group. Four patients with causative (likely) pathogenic variants and eight patients with variants of uncertain significance are identified.