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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt


  • Anna Tracewska-Siemiątkowska
  • Lonneke Haer-Wigman
  • Danielle G M Bosch
  • Deborah Nickerson
  • Michael J Bamshad
  • Maartje van de Vorst
  • Nanna Dahl Rendtorff
  • Claes Möller
  • Ulrika Kjellström
  • Sten Andréasson
  • Frans P M Cremers
  • Tranebjærg, Lisbeth
  • University of Washington Center for Mendelian Genomics

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.

Udgave nummer12
Antal sider9
StatusUdgivet - 11 dec. 2017

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