An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARSShow others and affiliations
2017 (English)In: Genes, ISSN 2073-4425, E-ISSN 2073-4425, Vol. 8, no 12, article id E381
Article in journal (Refereed) Published
Abstract [en]
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.
Place, publisher, year, edition, pages
Basel, Switzerland: MDPI AG , 2017. Vol. 8, no 12, article id E381
Keywords [en]
YARS, syndromic retinitis pigmentosa, whole exome sequencing
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:oru:diva-63407DOI: 10.3390/genes8120381ISI: 000419212400042PubMedID: 29232904Scopus ID: 2-s2.0-85038106245OAI: oai:DiVA.org:oru-63407DiVA, id: diva2:1167656
Note
Funding Agencies:
Stichting ODAS 2014-9
Vereniging Bartimeus-Sonneheerdt 5781251
Netherlands Organization for Scientific Research (TOP-grant) 91209047
National Human Genome Research Institute
National Heart, Lung and Blood Institute HG006493
2017-12-192017-12-192018-08-13Bibliographically approved