ArticleNature communications2019
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
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Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24citing papers in PubMed
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24 citing papers in PubMed, 40 citations in OpenAlex.
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Authors and funding
30 authors at 13 institutions in 6 countries.
María Cristina EstañInstituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain.
Elisa Fernández-NúñezInstituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain.
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt.
María Isabel EstebanDepartamento de Anatomía Patológica, Hospital Universitario La Paz-IdiPaz-UAM, 28046, Madrid, Spain.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA.
Cynthia HawkinsDivision of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1X8, Canada.
José A Caparros-MartinInstituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain.
Dimah SaadeNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA.
Ying HuNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA.
Véronique BolducNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA.
Katherine Ru-Yui ChaoCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, 02115, USA.
Julián NevadoInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz-UAM, 28046, Madrid, Spain.
Ana LamuedraBone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM, 28040, Madrid, Spain.
Raquel LargoBone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM, 28040, Madrid, Spain.ORCID http://orcid.org/0000-0001-6525-2944
Gabriel Herrero-BeaumontBone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM, 28040, Madrid, Spain.ORCID http://orcid.org/0000-0002-3241-991X
Javier RegaderaDepartamento de Anatomía, Histología y Neurociencia, Facultad de Medicina, Universidad Autónoma de Madrid, 28029, Madrid, Spain.
Concepción Hernandez-ChicoCIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.
Eduardo F TizzanoCIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.
Victor Martinez-GlezCIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.ORCID http://orcid.org/0000-0002-4680-881X
Jaime J CarvajalCentro Andaluz de Biología del Desarrollo (CSIC-UPO-JA), Universidad Pablo de Olavide, 41013, Sevilla, Spain.
Ruiting ZongDepartment of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, 1250 Moursund Street, Houston, TX, 77030, USA.
David L NelsonDepartment of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, 1250 Moursund Street, Houston, TX, 77030, USA.
Ghada A OtaifyDepartment of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt.
Samia TemtamyDepartment of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt.
Mona AglanDepartment of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt.
Mahmoud IssaDepartment of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt.ORCID http://orcid.org/0000-0002-3899-2821
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA.
Pablo LapunzinaCIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.
Grace YoonDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada. grace.yoon@utoronto.ca.
Victor L Ruiz-PerezInstituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain. vlruiz@iib.uam.es.
Hospital Universitario La Paz · ESNational Institutes of Health · USNational Research Centre · EGHospital Universitario Fundación Jiménez Díaz · ESBaylor College of Medicine · USInstituto de Salud Carlos III · ESUniversity of Toronto · CABroad Institute · USCentro Andaluz de Biología del Desarrollo · ESCurtin University · AUHebron University · PSInstituto de Investigaciones Biomédicas Sols-Morreale · ESUniversidad Autónoma de Madrid · ES
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MNHGRI NIH HHS UM1 HG008900
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.
Indexed as
Genes, RecessiveMutationAnimalsCells, CulturedExonsGene ExpressionGenetic Predisposition to DiseaseHEK293 CellsHeLa CellsHumansMice, TransgenicMuscle, SkeletalMyopathies, Structural, CongenitalOphthalmoplegiaRNA-Binding ProteinsRyanodine Receptor Calcium Release ChannelFxr1h protein, mouseFXR1 protein, humanRNA-Binding ProteinsRyanodine Receptor Calcium Release Channel
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