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 () and Victor L. Ruiz-Perez ()
Additional contact information
María Cristina Estañ: Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM
Elisa Fernández-Núñez: Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM
Maha S. Zaki: National Research Centre
María Isabel Esteban: Hospital Universitario La Paz-IdiPaz-UAM
Sandra Donkervoort: National Institutes of Health
Cynthia Hawkins: University of Toronto
José A. Caparros-Martin: Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM
Dimah Saade: National Institutes of Health
Ying Hu: National Institutes of Health
Véronique Bolduc: National Institutes of Health
Katherine Ru-Yui Chao: Broad Institute of MIT and Harvard
Julián Nevado: Hospital Universitario La Paz-IdiPaz-UAM
Ana Lamuedra: The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM
Raquel Largo: The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM
Gabriel Herrero-Beaumont: The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM
Javier Regadera: Universidad Autónoma de Madrid
Concepción Hernandez-Chico: CIBER de Enfermedades Raras (CIBERER), ISCIII
Eduardo F. Tizzano: CIBER de Enfermedades Raras (CIBERER), ISCIII
Victor Martinez-Glez: CIBER de Enfermedades Raras (CIBERER), ISCIII
Jaime J. Carvajal: Universidad Pablo de Olavide
Ruiting Zong: Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine
David L. Nelson: Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine
Ghada A. Otaify: National Research Centre
Samia Temtamy: National Research Centre
Mona Aglan: National Research Centre
Mahmoud Issa: National Research Centre
Carsten G. Bönnemann: National Institutes of Health
Pablo Lapunzina: CIBER de Enfermedades Raras (CIBERER), ISCIII
Grace Yoon: University of Toronto
Victor L. Ruiz-Perez: Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM

Nature Communications, 2019, vol. 10, issue 1, 1-19

Abstract: 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.

Date: 2019
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DOI: 10.1038/s41467-019-08548-9

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