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

ABSTRACT: 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 ret

SUBMITTER: Tracewska-Siemiatkowska A 

PROVIDER: S-EPMC5748699 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature