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Sökning: WFRF:(Bamshad Michael) > (2017) > An Expanded Multi-O...

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

Tracewska-Siemiątkowska, Anna (författare)
DNA Analysis Laboratory, Wrocław Research Centre EIT+, Wrocław, Poland; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Haer-Wigman, Lonneke (författare)
Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands
Bosch, Danielle G. M. (författare)
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
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Nickerson, Deborah (författare)
Department of Genome Sciences, University of Washington, Seattle WA, USA
Bamshad, Michael J. (författare)
Department of Pediatrics, University of Washington, Seattle WA, USA
van de Vorst, Maartje (författare)
Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
Rendtorff, Nanna Dahl (författare)
Department of Clinical Genetics,The Kennedy Centre/Rigshospitalet/, Glostrup, Denmark,Copenhagen University Hospital
Möller, Claes, 1950- (författare)
Örebro universitet,Institutionen för hälsovetenskaper,Audiological Research Centre, University Hospital Örebro, Örebro, Sweden; Swedish Institute of Disability Research, Örebro University, Örebro, Sweden
Kjellström, Ulrika (författare)
Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
Andréasson, Sten (författare)
Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
Cremers, Frans P. M. (författare)
Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen,The Netherlands
Tranebjærg, Lisbeth (författare)
Department of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, Glostrup, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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 (creator_code:org_t)
 
2017-12-11
2017
Engelska.
Ingår i: Genes. - Basel, Switzerland : MDPI AG. - 2073-4425. ; 8:12
Relaterad länk:
https://doi.org/10.3...
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https://www.mdpi.com...
http://dx.doi.org/10... (free)
https://urn.kb.se/re...
https://doi.org/10.3...
https://lup.lub.lu.s...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Oftalmologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Ophthalmology (hsv//eng)

Nyckelord

YARS
syndromic retinitis pigmentosa
whole exome sequencing

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