An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
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- An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
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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.
Originalsprog | Engelsk |
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Artikelnummer | 381 |
Tidsskrift | Genes |
Vol/bind | 8 |
Udgave nummer | 12 |
Antal sider | 9 |
ISSN | 2073-4425 |
DOI | |
Status | Udgivet - 11 dec. 2017 |
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