Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Tenney A, Di Gioia S, Webb B, Chan W, de Boer E, Garnai S, Barry B, Ray T, Kosicki M, Robson C, Zhang Z, Collins T, Gelber A, Pratt B, Fujiwara Y, Varshney A, Lek M, Warburton P, Van Ryzin C, Lehky T, Zalewski C, King K, Brewer C, Thurm A, Snow J, Facio F, Narisu N, Bonnycastle L, Swift A, Chines P, Bell J, Mohan S, Whitman M, Staffieri S, Elder J, Demer J, Torres A, Rachid E, Al-Haddad C, Boustany R, Mackey D, Brady A, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg G, Raskin S, Sato M, Orkin S, Parker S, Hadlock T, Vissers L, van Bokhoven H, Jabs E, Collins F, Pennacchio L, Manoli I, Engle E. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature Genetics 2023, 55: 1149-1163. PMID: 37386251, PMCID: PMC10335940, DOI: 10.1038/s41588-023-01424-9.Peer-Reviewed Original ResearchConceptsSingle-nucleotide variantsGATA2 expressionHereditary congenital facial paresisBranchial motor neuronsLoss of GATA3Temporal gene regulationRare Mendelian diseasesChromosome 3q21-q22Autosomal dominant disorderSilencing in vitroNoncoding variationNoncoding variantsFacial paresisMendelian diseasesGene regulationRegulatory regionsHeterozygous duplicationDominant disorderMouse modelReporter expressionType 1Efferent neuronsMotor neuronsGATA2In vivo
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