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

Tracewska-Siemiątkowska, Anna; Haer-Wigman, Lonneke; Bosch, Danielle G M; Nickerson, Deborah; Bamshad, Michael J; , ; van de Vorst, Maartje; Rendtorff, Nanna Dahl; Möller, Claes and Kjellström, Ulrika LU , et al. (2017) In Genes 8(12).
Abstract

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... (More)

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.

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publication status
published
subject
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Genes
volume
8
issue
12
publisher
MDPI AG
external identifiers
  • scopus:85038106245
ISSN
2073-4425
DOI
10.3390/genes8120381
language
English
LU publication?
yes
id
9bd9aa40-838e-48b9-b49d-e29070fe2000
date added to LUP
2018-01-10 11:18:19
date last changed
2018-01-14 04:38:07
@article{9bd9aa40-838e-48b9-b49d-e29070fe2000,
  abstract     = {<p>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 &gt; 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.</p>},
  articleno    = {381},
  author       = {Tracewska-Siemiątkowska, Anna and Haer-Wigman, Lonneke and Bosch, Danielle G M and Nickerson, Deborah and Bamshad, Michael J and ,  and van de Vorst, Maartje and Rendtorff, Nanna Dahl and Möller, Claes and Kjellström, Ulrika and Andréasson, Sten and Cremers, Frans P M and Tranebjærg, Lisbeth},
  issn         = {2073-4425},
  language     = {eng},
  month        = {12},
  number       = {12},
  publisher    = {MDPI AG},
  series       = {Genes},
  title        = {An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS},
  url          = {http://dx.doi.org/10.3390/genes8120381},
  volume       = {8},
  year         = {2017},
}