An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
AbstractWhole exome sequence analysis was performed in a Swedish mother–father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations in YARS underlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum of YARS-associated disorders. View Full-Text
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Tracewska-Siemiątkowska, A.; Haer-Wigman, L.; Bosch, D.G.M.; Nickerson, D.; Bamshad, M.J.; University of Washington Center for Mendelian Genomics; van de Vorst, M.; Rendtorff, N.D.; Möller, C.; Kjellström, U.; Andréasson, S.; Cremers, F.P.M.; Tranebjærg, L. An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes 2017, 8, 381.
Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ, University of Washington Center for Mendelian Genomics, van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L. An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes. 2017; 8(12):381.Chicago/Turabian Style
Tracewska-Siemiątkowska, Anna; Haer-Wigman, Lonneke; Bosch, Danielle G.M.; Nickerson, Deborah; Bamshad, Michael J.; University of Washington Center for Mendelian Genomics; van de Vorst, Maartje; Rendtorff, Nanna D.; Möller, Claes; Kjellström, Ulrika; Andréasson, Sten; Cremers, Frans P.M.; Tranebjærg, Lisbeth. 2017. "An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS." Genes 8, no. 12: 381.
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