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; J. C. Möller; U. Kjellström; S. Andréasson; Maartje Van De Vorst; Nanna Dahl Rendtorff; Claes Möller; Ulrika Kjellström; Sten Andréasson; Frans P. M. Cremers; Lisbeth Tranebjærg

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, J. C. Möller, U. Kjellström, S. Andréasson, Maartje Van De Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P. M. Cremers, Lisbeth Tranebjærg

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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.

Original language	English
Article number	381
Number of pages	9
Journal	Genes [E]
Volume	8
Issue number	12
DOIs	https://doi.org/10.3390/genes8120381
Publication status	Published - 11 Dec 2017

Keywords

Syndromic retinitis pigmentosa
Whole exome sequencing
YARS

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Tracewska-Siemiątkowska, A., Haer-Wigman, L., Bosch, D. G. M., Nickerson, D., Bamshad, M. J., Möller, J. C., Kjellström, U., Andréasson, S., Van De Vorst, M., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S., Cremers, F. P. M., & Tranebjærg, L. (2017). An expanded multi-organ disease phenotype associated with mutations in YARS. Genes [E], 8(12), Article 381. 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 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.",

keywords = "Syndromic retinitis pigmentosa, Whole exome sequencing, YARS",

author = "Anna Tracewska-Siemi{\c a}tkowska and Lonneke Haer-Wigman and Bosch, {Danielle G.M.} and Deborah Nickerson and Bamshad, {Michael J.} and M{\"o}ller, {J. C.} and U. Kjellstr{\"o}m and S. Andr{\'e}asson 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",

note = "Publisher Copyright: {\textcopyright} 2017 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2017",

month = dec,

day = "11",

doi = "10.3390/genes8120381",

language = "English",

volume = "8",

journal = "Genes [E]",

issn = "2073-4425",

publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",

number = "12",

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Tracewska-Siemiątkowska, A, Haer-Wigman, L, Bosch, DGM, Nickerson, D, Bamshad, MJ, Möller, JC, Kjellström, U, Andréasson, S, Van De Vorst, M, Rendtorff, ND, Möller, C, Kjellström, U, Andréasson, S, Cremers, FPM & Tranebjærg, L 2017, 'An expanded multi-organ disease phenotype associated with mutations in YARS', Genes [E], vol. 8, no. 12, 381. https://doi.org/10.3390/genes8120381

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 - Möller, J. C.

AU - Kjellström, U.

AU - Andréasson, S.

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

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.

KW - Syndromic retinitis pigmentosa

KW - Whole exome sequencing

KW - YARS

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DO - 10.3390/genes8120381

M3 - Article

AN - SCOPUS:85038106245

SN - 2073-4425

VL - 8

JO - Genes [E]

JF - Genes [E]

IS - 12

M1 - 381

ER -

An expanded multi-organ disease phenotype associated with mutations in YARS

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