Article open access publication

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

Genes, MDPI, ISSN 2073-4425

Volume 8, 12, 2017

DOI:10.3390/genes8120381, Dimensions: pub.1099790437, PMC: PMC5748699, PMID: 29232904,



  1. (1) Wroclaw Research Centre EIT+ (Poland), grid.426430.7
  2. (2) Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands; (L.H.-W.); (D.G.M.B.); (M.v.d.V.); (F.P.M.C.)
  3. (3) Bartiméus, grid.491158.0
  4. (4) Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 EN Nijmegen, The Netherlands
  5. (5) University of Washington, grid.34477.33
  6. (6) Department of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, DK-2600 Glostrup, Denmark; (N.D.R.); (L.T.)
  7. (7) Audiological Research Centre/Swedish Institute of Disability Research, University Hospital Örebro, Örebro University, 701 85 Örebro, Sweden;
  8. (8) Department of Clinical Science Lund, Ophthalmology, University of Lund, 221 00 Lund, Sweden; (U.K.); (S.A.)
  9. (9) Lund University, grid.4514.4
  10. (10) University of Copenhagen, grid.5254.6, KU


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.


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