EVAapplication/xmlftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB35159/Karina_varint-opt1.vcf.gzftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB35159/Karina_varint-opt1.vcf.gz.tbiprimaryOK2000000Exome SequencingGenomicsOtorhinolaryngology lab/LIM32 - Hospital das Clinicas, Faculdade de Medicina, Universidade de S?o PauloIllumina HiSeq 2000Homo Sapienshttps://www.ebi.ac.uk/eva/?eva-study=PRJEB35159EVADeaf Mutism, Materials, hearing impairment, "Bilateral Deafness" EXACT [NCI2004_11_17:C36193], Complete deafness (finding), Gene, Prelingual, Total Deafness, Cistrons, deafness, Deaf-Mutism, Deafness NOS (finding), Deafness, "deafness" EXACT [CSP2005:0977-5812], Permanents, Deafness NOS (disorder), "Deafness NOS (finding)" EXACT [SNOMEDCT_2005_07_31:267678002], "Deafness NOS" EXACT [MTHICD9_2006:389.9], Hearing loss, Complete Hearing Loss, Prelingual Deafness, "complete hearing loss" EXACT [], Genetic Materials, Hearing Loss Permanent, Genetic Material, Hearing Loss, Acquired Deafness, Permanent, Acquired, Complete, Genetic, "Deafness NOS" EXACT [SNOMEDCT_2005_07_31:194432002], "Total Deafness" EXACT [NCI2004_11_17:C36194], Deafness NOS, INSDC_feature:gene, Bilateral deafness (finding), "Deafness NOS" EXACT [SNOMEDCT_2005_07_31:155259007], Hypoacusis, NOS" EXACT [SNOMEDCT_2005_07_31:15188001], Bilateral Deafness, Extreme Hearing Loss, Extreme, "deafness" EXACT [MTH:345], Material, "Deafness, "Bilateral deafness (finding)" EXACT [SNOMEDCT_2005_07_31:162344009], "Complete deafness (finding)" EXACT [SNOMEDCT_2005_07_31:8531006], Cistron, Genetic Material., Deafness Permanent, complete hearing lossNetworks, AI854501, 5330437A18Rik, CALNB1, Materials, Complete Exome Sequencings, Family Member, Kinship, Family Research, Crip1a, Complete Exome, DP, 3110054C06Rik, Exome, kinetic polymerase chain reaction, familial, Gene, Mini Exon, Network, qPCR, Multiplex ligation-dependent probe amplification, Cistrons, Triplex PCR, Family Members, DP., Exome Sequencing, Triplex, Triplex Polymerase Chain Reaction, Mini-Exon, Genetic Materials, Life Cycle, Whole Transcriptome, Transcriptome Sequencing, rare (European definition), CNB, Filiation, Genetic Material, canb, PCR, Family Life Cycle, WES, Complete Transcriptome, CNB1, Complete, Multiplex, CNV analysis, Complete Transcriptome Sequencing, Exome Sequencings, Q-PCR, Genetic, Kinship Network, MCIP1, Research, exonic region, CRIP1, Mini-Exons, Complete Exome Sequencing, Whole Transcriptome Sequencing, P47, Exon, INSDC_feature:gene, Multiplex Ligation-Dependent Probe Amplification, Sequencing, genetic, LMA, Life Cycles, CaNB1, Whole Exome, 1500041B16Rik, Material, Families, Whole, Whole Exome Sequencing, Multiplex PCR, Cistron, MLPA, inherited genetic, Multiplex Ligation Dependent Probe Amplification, Kinship Networks, C2orf32, Family Life Cycles, Family, constitutitional genetic, Transcriptome Sequencings, Relatives, hereditary, Cnb1, quantitative real time polymerase chain reaction, RGD13083730falseIdentification of a novel deafness gene: functional studies of candidate genes to DFNA58 locusThrough CNV analysis of data from exome sequencing, MLPA (multiplex ligation-dependent probe amplification) and RT-qPCR, we revealed the gene responsible for DFNA58 HL: 20 affected family members inherited a duplication including two entire genes, CNRIP1 and PLEK, and exon 1 from PPP3R1. Overexpression of CNRIP1 because of this rare genomic duplication was dectected in all duplication carriers tested but not in noncarriers.2020-01-06PRJEB351599606