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

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

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

17 Citeringar (SciVal)

Sammanfattning

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.

Originalspråkengelska
Artikelnummer381
TidskriftGenes
Volym8
Utgåva12
DOI
StatusPublished - 2017 dec. 11

Ämnesklassifikation (UKÄ)

  • Oftalmologi

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