Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

María Cristina Estañ; Elisa Fernández-Núñez; Maha S. Zaki; María Isabel Esteban; Sandra Donkervoort; Cynthia Hawkins; José A. Caparros-Martin; Dimah Saade; Ying Hu; Véronique Bolduc; Katherine Ru Yui Chao; Julián Nevado; Ana Lamuedra; Raquel Largo; Gabriel Herrero-Beaumont; Javier Regadera; Concepción Hernandez-Chico; Eduardo F. Tizzano; Victor Martinez-Glez; Jaime J. Carvajal; Ruiting Zong; David L. Nelson; Ghada A. Otaify; Samia Temtamy; Mona Aglan; Mahmoud Issa; Carsten G. Bönnemann; Pablo Lapunzina; Grace Yoon; Victor L. Ruiz-Perez

doi:10.1038/s41467-019-08548-9

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. CarvajalRuiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez^*

^*Corresponding author for this work

Genetics

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

Abstract

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.

Original language	English
Article number	797
Journal	Nature Communications
Volume	10
Issue number	1
DOIs	https://doi.org/10.1038/s41467-019-08548-9
Publication status	Published - Dec 1 2019

ASJC Scopus subject areas

General Chemistry
General Biochemistry,Genetics and Molecular Biology
General Physics and Astronomy

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Estañ, M. C., Fernández-Núñez, E., Zaki, M. S., Esteban, M. I., Donkervoort, S., Hawkins, C., Caparros-Martin, J. A., Saade, D., Hu, Y., Bolduc, V., Chao, K. R. Y., Nevado, J., Lamuedra, A., Largo, R., Herrero-Beaumont, G., Regadera, J., Hernandez-Chico, C., Tizzano, E. F., Martinez-Glez, V., ... Ruiz-Perez, V. L. (2019). Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nature Communications, 10(1), Article 797. https://doi.org/10.1038/s41467-019-08548-9

Estañ, MC, Fernández-Núñez, E, Zaki, MS, Esteban, MI, Donkervoort, S, Hawkins, C, Caparros-Martin, JA, Saade, D, Hu, Y, Bolduc, V, Chao, KRY, Nevado, J, Lamuedra, A, Largo, R, Herrero-Beaumont, G, Regadera, J, Hernandez-Chico, C, Tizzano, EF, Martinez-Glez, V, Carvajal, JJ, Zong, R, Nelson, DL, Otaify, GA, Temtamy, S, Aglan, M, Issa, M, Bönnemann, CG, Lapunzina, P, Yoon, G & Ruiz-Perez, VL 2019, 'Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy', Nature Communications, vol. 10, no. 1, 797. https://doi.org/10.1038/s41467-019-08548-9

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title = "Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy",

abstract = "FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.",

author = "Esta{\~n}, {Mar{\'i}a Cristina} and Elisa Fern{\'a}ndez-N{\'u}{\~n}ez and Zaki, {Maha S.} and Esteban, {Mar{\'i}a Isabel} and Sandra Donkervoort and Cynthia Hawkins and Caparros-Martin, {Jos{\'e} A.} and Dimah Saade and Ying Hu and V{\'e}ronique Bolduc and Chao, {Katherine Ru Yui} and Juli{\'a}n Nevado and Ana Lamuedra and Raquel Largo and Gabriel Herrero-Beaumont and Javier Regadera and Concepci{\'o}n Hernandez-Chico and Tizzano, {Eduardo F.} and Victor Martinez-Glez and Carvajal, {Jaime J.} and Ruiting Zong and Nelson, {David L.} and Otaify, {Ghada A.} and Samia Temtamy and Mona Aglan and Mahmoud Issa and B{\"o}nnemann, {Carsten G.} and Pablo Lapunzina and Grace Yoon and Ruiz-Perez, {Victor L.}",

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AU - Estañ, María Cristina

AU - Fernández-Núñez, Elisa

AU - Zaki, Maha S.

AU - Esteban, María Isabel

AU - Donkervoort, Sandra

AU - Hawkins, Cynthia

AU - Caparros-Martin, José A.

AU - Saade, Dimah

AU - Hu, Ying

AU - Bolduc, Véronique

AU - Chao, Katherine Ru Yui

AU - Nevado, Julián

AU - Lamuedra, Ana

AU - Largo, Raquel

AU - Herrero-Beaumont, Gabriel

AU - Regadera, Javier

AU - Hernandez-Chico, Concepción

AU - Tizzano, Eduardo F.

AU - Martinez-Glez, Victor

AU - Carvajal, Jaime J.

AU - Zong, Ruiting

AU - Nelson, David L.

AU - Otaify, Ghada A.

AU - Temtamy, Samia

AU - Aglan, Mona

AU - Issa, Mahmoud

AU - Bönnemann, Carsten G.

AU - Lapunzina, Pablo

AU - Yoon, Grace

AU - Ruiz-Perez, Victor L.

PY - 2019/12/1

Y1 - 2019/12/1

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AB - FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.

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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Abstract

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