An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
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...
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doaj-fa7e7a56ac5241299387ca2200c0597d2020-11-24T21:18:33ZengMDPI AGGenes2073-44252017-12-0181238110.3390/genes8120381genes8120381An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARSAnna Tracewska-Siemiątkowska0Lonneke Haer-Wigman1Danielle G. M. Bosch2Deborah Nickerson3Michael J. Bamshad4University of Washington Center for Mendelian Genomics5Maartje van de Vorst6Nanna Dahl Rendtorff7Claes Möller8Ulrika Kjellström9Sten Andréasson10Frans P. M. Cremers11Lisbeth Tranebjærg12DNA Analysis Laboratory, Wrocław Research Centre EIT+, 54-066 Wrocław, PolandDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USADepartment of Pediatrics, University of Washington, Seattle, WA 98195, USAUniversity of Washington, Seattle, WA 98195, USADepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, DK-2600 Glostrup, DenmarkAudiological Research Centre/Swedish Institute of Disability Research, University Hospital Örebro, Örebro University, 701 85 Örebro, SwedenDepartment of Clinical Science Lund, Ophthalmology, University of Lund, 221 00 Lund, SwedenDepartment of Clinical Science Lund, Ophthalmology, University of Lund, 221 00 Lund, SwedenDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, DK-2600 Glostrup, DenmarkWhole 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.https://www.mdpi.com/2073-4425/8/12/381YARSsyndromic retinitis pigmentosawhole exome sequencing |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Anna Tracewska-Siemiątkowska Lonneke Haer-Wigman Danielle G. M. Bosch Deborah Nickerson Michael J. Bamshad University of Washington Center for Mendelian Genomics Maartje van de Vorst Nanna Dahl Rendtorff Claes Möller Ulrika Kjellström Sten Andréasson Frans P. M. Cremers Lisbeth Tranebjærg |
| spellingShingle |
Anna Tracewska-Siemiątkowska Lonneke Haer-Wigman Danielle G. M. Bosch Deborah Nickerson Michael J. Bamshad University of Washington Center for Mendelian Genomics Maartje van de Vorst Nanna Dahl Rendtorff Claes Möller Ulrika Kjellström Sten Andréasson Frans P. M. Cremers Lisbeth Tranebjærg An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS Genes YARS syndromic retinitis pigmentosa whole exome sequencing |
| author_facet |
Anna Tracewska-Siemiątkowska Lonneke Haer-Wigman Danielle G. M. Bosch Deborah Nickerson Michael J. Bamshad University of Washington Center for Mendelian Genomics Maartje van de Vorst Nanna Dahl Rendtorff Claes Möller Ulrika Kjellström Sten Andréasson Frans P. M. Cremers Lisbeth Tranebjærg |
| author_sort |
Anna Tracewska-Siemiątkowska |
| title |
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS |
| title_short |
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS |
| title_full |
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS |
| title_fullStr |
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS |
| title_full_unstemmed |
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS |
| title_sort |
expanded multi-organ disease phenotype associated with mutations in yars |
| publisher |
MDPI AG |
| series |
Genes |
| issn |
2073-4425 |
| publishDate |
2017-12-01 |
| description |
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. |
| topic |
YARS syndromic retinitis pigmentosa whole exome sequencing |
| url |
https://www.mdpi.com/2073-4425/8/12/381 |
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