![]() Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. ![]() A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Update of the GJB2/DFNB1 mutation spectrum in Russia: A founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions. ![]() A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Molecular epidemiology of DFNB1 deafness in France. GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation? Int. A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment. Hearing impairment: A panoply of genes and functions. Newborn Hearing Screening-A Silent Revolution. GJB2 and GJB6 Mutations: Genotypic and Phenotypic Correlations in a Large Cohort of Hearing-Impaired Patients. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis. Clinical features of the prevalent form of childhood deafness. The authors declare that they have no conflict of interest. Functional assays (gene reporter tests, chromatin immunoprecipitation and CRISPR-Cas9 analysis) could be used to validate potential regulatory variants. When genomic rearrangements or SNVs are located in non-coding regions, a study of the three-dimensional organization of chromatin study and an analysis of the TADs (Topologically associated domains) in the loci possibly involved in genetic diseases will be proposed by chromatin conformation approaches derived from 3C (Chromosome Conformation Capture). The analysis of cis-regulatory regions will allow the functional impact exploration of certain genomic rearrangements or variants in the chromatin organization. This would thus help in better diagnosis and therefore better management. A better understanding of regulatory mechanisms of gene expression could elucidate cases of patients where the phenotype is not yet explained by the genotype. Cis-acting regions may be a therapeutic challenge that could lead to the development of specific molecules capable of modulating gene expression in the future.
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