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Rigshospitalet - en del af Københavns Universitetshospital
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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

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DOI

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  • 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
  • Lisbeth Tranebjærg
  • University of Washington Center for Mendelian Genomics
Vis graf over relationer

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 inYARShave previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations inYARSunderlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum ofYARS-associated disorders.

OriginalsprogEngelsk
TidsskriftGenes
Vol/bind8
Udgave nummer12
Sider (fra-til)E381
ISSN2073-4425
DOI
StatusUdgivet - 11 dec. 2017

ID: 52737501