Nature Communications (Feb 2019)
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
Affiliations
- 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
- Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre
- María Isabel Esteban
- Departamento de Anatomía Patológica, Hospital Universitario La Paz-IdiPaz-UAM
- Sandra Donkervoort
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Cynthia Hawkins
- Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto
- José A. Caparros-Martin
- Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM
- Dimah Saade
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Ying Hu
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Véronique Bolduc
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Katherine Ru-Yui Chao
- Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
- Julián Nevado
- Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz-UAM
- Ana Lamuedra
- Bone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM
- Raquel Largo
- Bone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM
- Gabriel Herrero-Beaumont
- Bone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM
- Javier Regadera
- Departamento de Anatomía, Histología y Neurociencia, Facultad de Medicina, 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
- Centro Andaluz de Biología del Desarrollo (CSIC-UPO-JA), Universidad Pablo de Olavide
- Ruiting Zong
- Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine
- David L. Nelson
- Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine
- Ghada A. Otaify
- Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre
- Samia Temtamy
- Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre
- Mona Aglan
- Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre
- Mahmoud Issa
- Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre
- Carsten G. Bönnemann
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Pablo Lapunzina
- CIBER de Enfermedades Raras (CIBERER), ISCIII
- Grace Yoon
- Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto
- Victor L. Ruiz-Perez
- Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM
- DOI
- https://doi.org/10.1038/s41467-019-08548-9
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 19
Abstract
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
