An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(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.
(Less)
- author
- author collaboration
- organization
- publishing date
- 2017-12-11
- 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 > 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}}, }