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Open AccessCase Report

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

DNA Analysis Laboratory, Wrocław Research Centre EIT+, 54-066 Wrocław, Poland
Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands
Bartiméus, Institute for the Visually Impaired, 3700 BA Zeist, The Netherlands
Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 EN Nijmegen, The Netherlands
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
University of Washington, Seattle, WA 98195, USA
Department of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, DK-2600 Glostrup, Denmark
Audiological Research Centre/Swedish Institute of Disability Research, University Hospital Örebro, Örebro University, 701 85 Örebro, Sweden
Department of Clinical Science Lund, Ophthalmology, University of Lund, 221 00 Lund, Sweden
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;
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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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.

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