2021
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
2017
Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT
Ziki M, Seidelmann SB, Smith E, Atteya G, Jiang Y, Fernandes RG, Marieb MA, Akar JG, Mani A. Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT. Clinical Genetics 2017, 93: 741-751. PMID: 28407228, PMCID: PMC5640462, DOI: 10.1111/cge.13036.Peer-Reviewed Original ResearchConceptsLong QT syndromeSCN10A mutationsWhole-exome sequencingVoltage-gated sodium channel geneCongenital long QT syndromeHistory of palpitationsQT prolonging medicationsLife-threatening complicationsIdiopathic long QT syndromeProtein-altering mutationsSodium channel geneConfirmatory Sanger sequencingMutation burden analysisGenetic programAtrial fibrillationIdentifiable causeProlonged QTChannel genesMutation carriersArrhythmia genesQT syndromeGenesLQTS genesFrameshift mutationGenetic cause