Article
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Affiliations
Organisations
- (1) Wroclaw Research Centre EIT+ (Poland), grid.426430.7
- (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) Bartiméus, grid.491158.0
- (4) Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 EN Nijmegen, The Netherlands
- (5) University of Washington, grid.34477.33
- (6) Department of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, DK-2600 Glostrup, Denmark; (N.D.R.); (L.T.)
- (7) Audiological Research Centre/Swedish Institute of Disability Research, University Hospital Örebro, Örebro University, 701 85 Örebro, Sweden;
- (8) Department of Clinical Science Lund, Ophthalmology, University of Lund, 221 00 Lund, Sweden; (U.K.); (S.A.)
- (9) Lund University, grid.4514.4
- (10) University of Copenhagen, grid.5254.6, KU
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Description
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.