A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. PLoS One 2019;14(4):e0215212
Date
04/12/2019Pubmed ID
30973918Pubmed Central ID
PMC6459514DOI
10.1371/journal.pone.0215212Scopus ID
2-s2.0-85064268632 (requires institutional sign-in at Scopus site) 13 CitationsAbstract
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.
Author List
Liu Y, Hu C, Liu C, Liu D, Mei L, He C, Jiang L, Wu H, Chen H, Feng YAuthor
Ling Mei MD Associate Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Case-Control StudiesChina
Connexin 26
Connexins
DNA Mutational Analysis
Deafness
Genes, Mitochondrial
Hearing Loss, Bilateral
Humans
Multiplex Polymerase Chain Reaction
Mutation
Polymorphism, Single Nucleotide