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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 ; Kjellström, Ulrika LU and Andréasson, Sten 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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author collaboration
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Genes
volume
8
issue
12
article number
381
publisher
MDPI AG
external identifiers
  • pmid:29232904
  • 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
2025-01-08 02:32:03
@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>}},
  author       = {{Tracewska-Siemiątkowska, Anna and Haer-Wigman, Lonneke and Bosch, Danielle G M and Nickerson, Deborah and Bamshad, Michael J 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}},
  doi          = {{10.3390/genes8120381}},
  volume       = {{8}},
  year         = {{2017}},
}