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Case Report

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

1
DNA Analysis Laboratory, Wrocław Research Centre EIT+, 54-066 Wrocław, Poland
2
Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands
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Bartiméus, Institute for the Visually Impaired, 3700 BA Zeist, The Netherlands
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Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 EN Nijmegen, The Netherlands
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Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
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Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
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University of Washington, Seattle, WA 98195, USA
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Department of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, DK-2600 Glostrup, Denmark
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Audiological Research Centre/Swedish Institute of Disability Research, University Hospital Örebro, Örebro University, 701 85 Örebro, Sweden
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Department of Clinical Science Lund, Ophthalmology, University of Lund, 221 00 Lund, Sweden
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Institute of Clinical Medicine, University of Copenhagen, DK-2200 Copenhagen N, Denmark
*
Author to whom correspondence should be addressed.
Current address: Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.
Academic Editor: Jian-Min Chen
Genes 2017, 8(12), 381; https://doi.org/10.3390/genes8120381
Received: 2 November 2017 / Revised: 24 November 2017 / Accepted: 29 November 2017 / Published: 11 December 2017
Whole 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
Keywords: YARS; syndromic retinitis pigmentosa; whole exome sequencing YARS; syndromic retinitis pigmentosa; whole exome sequencing
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MDPI and ACS Style

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. https://doi.org/10.3390/genes8120381

AMA Style

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. https://doi.org/10.3390/genes8120381

Chicago/Turabian Style

Tracewska-Siemiątkowska, Anna, Lonneke Haer-Wigman, Danielle G.M. Bosch, Deborah Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Maartje Van de Vorst, Nanna D. Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P.M. Cremers, and Lisbeth Tranebjærg. 2017. "An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS" Genes 8, no. 12: 381. https://doi.org/10.3390/genes8120381

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