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

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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; Andréasson, Sten; Cremers, Frans P M; Tranebjærg, Lisbeth; University of Washington Center for Mendelian Genomics.

In: Genes, Vol. 8, No. 12, 381, 11.12.2017.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Tracewska-Siemiątkowska, A, Haer-Wigman, L, Bosch, DGM, Nickerson, D, Bamshad, MJ, van de Vorst, M, Rendtorff, ND, Möller, C, Kjellström, U, Andréasson, S, Cremers, FPM, Tranebjærg, L & University of Washington Center for Mendelian Genomics 2017, 'An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS', Genes, vol. 8, no. 12, 381. https://doi.org/10.3390/genes8120381

APA

Tracewska-Siemiątkowska, A., Haer-Wigman, L., Bosch, D. G. M., Nickerson, D., Bamshad, M. J., van de Vorst, M., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S., Cremers, F. P. M., Tranebjærg, L., & University of Washington Center for Mendelian Genomics (2017). An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes, 8(12), [381]. https://doi.org/10.3390/genes8120381

Vancouver

Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ, van de Vorst M et al. An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes. 2017 Dec 11;8(12). 381. https://doi.org/10.3390/genes8120381

Author

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 ; Andréasson, Sten ; Cremers, Frans P M ; Tranebjærg, Lisbeth ; University of Washington Center for Mendelian Genomics. / An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. In: Genes. 2017 ; Vol. 8, No. 12.

Bibtex

@article{c406780b27dc4231b8a6ca0f80fdec34,
title = "An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS",
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 variant of the disease, including retinitis pigmentosa and deafness, to the spectrum of YARS-associated disorders.",
author = "Anna Tracewska-Siemi{\c a}tkowska and Lonneke Haer-Wigman and Bosch, {Danielle G M} and Deborah Nickerson and Bamshad, {Michael J} and {van de Vorst}, Maartje and Rendtorff, {Nanna Dahl} and Claes M{\"o}ller and Ulrika Kjellstr{\"o}m and Sten Andr{\'e}asson and Cremers, {Frans P M} and Lisbeth Tranebj{\ae}rg and {University of Washington Center for Mendelian Genomics}",
year = "2017",
month = dec,
day = "11",
doi = "10.3390/genes8120381",
language = "English",
volume = "8",
journal = "Genes",
issn = "2073-4425",
publisher = "M D P I AG",
number = "12",

}

RIS

TY - JOUR

T1 - An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

AU - Tracewska-Siemiątkowska, Anna

AU - Haer-Wigman, Lonneke

AU - Bosch, Danielle G M

AU - Nickerson, Deborah

AU - Bamshad, Michael J

AU - van de Vorst, Maartje

AU - Rendtorff, Nanna Dahl

AU - Möller, Claes

AU - Kjellström, Ulrika

AU - Andréasson, Sten

AU - Cremers, Frans P M

AU - Tranebjærg, Lisbeth

AU - University of Washington Center for Mendelian Genomics

PY - 2017/12/11

Y1 - 2017/12/11

N2 - 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.

AB - 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.

U2 - 10.3390/genes8120381

DO - 10.3390/genes8120381

M3 - Journal article

C2 - 29232904

VL - 8

JO - Genes

JF - Genes

SN - 2073-4425

IS - 12

M1 - 381

ER -

ID: 196138237