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

Anna Tracewska-Siemiątkowska; Lonneke Haer-Wigman; Danielle G M Bosch; Deborah Nickerson; Michael J Bamshad; Maartje van de Vorst; Nanna Dahl Rendtorff; Claes Möller; Ulrika Kjellström; Sten Andréasson; Frans P M Cremers; Lisbeth Tranebjærg; University of Washington Center for Mendelian Genomics

doi:10.3390/genes8120381

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

Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G M Bosch, Deborah Nickerson, Michael J Bamshad, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P M Cremers, Lisbeth Tranebjærg, University of Washington Center for Mendelian Genomics

22 Citationer (Scopus)

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 inYARShave previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations inYARSunderlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum ofYARS-associated disorders.

Originalsprog	Engelsk
Tidsskrift	Genes
Vol/bind	8
Udgave nummer	12
Sider (fra-til)	E381
ISSN	2073-4425
DOI	https://doi.org/10.3390/genes8120381
Status	Udgivet - 11 dec. 2017

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10.3390/genes8120381

Citationsformater

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), E381. https://doi.org/10.3390/genes8120381

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, bind 8, nr. 12, s. E381. https://doi.org/10.3390/genes8120381

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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 inYARShave previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations inYARSunderlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum ofYARS-associated disorders.",

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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",

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doi = "10.3390/genes8120381",

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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

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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 inYARShave previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations inYARSunderlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum ofYARS-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 inYARShave previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations inYARSunderlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum ofYARS-associated disorders.

KW - Case Reports

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

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