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PLoS One. 2019 Apr 11;14(4):e0215212. doi: 10.1371/journal.pone.0215212. eCollection 2019.

A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.

Liu Y1,2, Hu C3, Liu C1,2, Liu D4, Mei L1,2, He C1,2, Jiang L1,2, Wu H1,2, Chen H1,2, Feng Y1,2.

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Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China.
Department of Otolaryngology, The First Hospital of Changsha, Changsha, Hunan, China.
R&D Department, Genesky Diagnostics Inc., Suzhou, Jiangsu, China.


Hearing loss (HL) is a common sensory disorder. More than half of HL cases can be attributed to genetic causes. There is no effective therapy for genetic HL at present, early diagnosis to reduce the incidence of genetic HL is important for clinical intervention in genetic HL. Previous studies have identified 111 nonsyndromic hearing loss genes. The most frequently mutated genes identified in NSHL patients in China include GJB2, SLC26A4, and the mitochondrial gene MT-RNR1. It is important to develop HL gene panels in Chinese population, which allow for etiologic diagnosis of both SHL and NSHL. In this study, a total of 220 unrelated Han Chinese patients with bilateral progressive SNHL and 50 unrelated healthy controls were performed Single nucleotide polymorphism (SNP) genotyping using an improved multiplex ligation detection reaction (iMLDR) technique, is to simultaneously detect a total of 32 mutations in ten HL genes, covering all currently characterized mutations involved in the etiology of nonsyndromic or syndromic hearing loss in the Chinese population. The 49 positive samples with known mutations were successfully detected using the iMLDR Technique. For 171 SNHL patients, gene variants were found in 57 cases (33.33%), among which, 30 patients carried mutations in GJB2, 14 patients carried mutations in SLC26A4, seven patients carried mutations in GJB3, and six patients carried mutations in MT-RNR1. The molecular etiology of deafness was confirmed in 12.9% (22/171) of patients carried homozygous variants. These results were verified by Sanger sequencing, indicating that the sensitivity and specificity of the iMLDR technique was 100%. We believe that the implementation of this population-specific technology at an efficient clinical level would have great value in HL diagnosis and treatment.

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Conflict of interest statement

Genesky Diagnostics Inc and all of the authors have declared that no competing interests exist in this article. There is no commercial affiliation along with any other relevant employment, consultancy, patents, products in development, or marketed products, etc. This does not alter our adherence to PLOS ONE policies on sharing data and materials.

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