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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
DNA Analysis Laboratory, Wrocław Research Centre EIT+, Wrocław, Poland; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Genome Sciences, University of Washington, Seattle, WA, USA.
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2017 (English)In: Genes, ISSN 2073-4425, E-ISSN 2073-4425, Vol. 8, no 12, article id E381Article 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
Keyword [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 

Available from: 2017-12-19 Created: 2017-12-19 Last updated: 2018-01-25Bibliographically approved

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