Identification of homozygous mutations for hearing loss
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A. Identification of homozygous mutations for hearing loss. Gene 2021, 778: 145464. PMID: 33524517, PMCID: PMC7987747, DOI: 10.1016/j.gene.2021.145464.Peer-Reviewed Original ResearchConceptsAutosomal recessive nonsyndromic deafnessWhole-exome sequencingEfficacy of WESHomozygous mutationGenetic screeningSanger sequencingCause of deafnessConsanguineous unionsNew pathogenic mutationsCommon sensory disorderMissense mutationsHigh prevalenceSensory disordersHomozygous missense mutationIranian populationEarly screeningNovel therapeuticsSingle gene disordersExome sequencingMajor genetic componentESRRB genePathogenic mutationsSpectrum of genesFuture genetic screeningRecessive fashion