Publication Date:
2017-12-12
Description:
Genes, Vol. 8, Pages 381: An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS Genes doi: 10.3390/genes8120381 Authors: Anna Tracewska-Siemiątkowska Lonneke Haer-Wigman Danielle Bosch Deborah Nickerson Michael Bamshad University of Washington Center for Mendelian Genomics Maartje van de Vorst Nanna Rendtorff Claes Möller Ulrika Kjellström Sten Andréasson Frans Cremers Lisbeth Tranebjærg 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.
Electronic ISSN:
2073-4425
Topics:
Biology
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