Assuntos
Paralisia Bulbar Progressiva/tratamento farmacológico , Paralisia Bulbar Progressiva/fisiopatologia , Perda Auditiva Neurossensorial/tratamento farmacológico , Perda Auditiva Neurossensorial/fisiopatologia , Receptores Acoplados a Proteínas G/deficiência , Riboflavina/farmacocinética , Complexo Vitamínico B/farmacocinética , Adulto , Paralisia Bulbar Progressiva/genética , Perda Auditiva Neurossensorial/genética , Humanos , Masculino , Riboflavina/administração & dosagem , Complexo Vitamínico B/administração & dosagemRESUMO
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.
