Nature Communications (Jul 2017)
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
- Silvio Alessandro Di Gioia,
- Samantha Connors,
- Norisada Matsunami,
- Jessica Cannavino,
- Matthew F. Rose,
- Nicole M. Gilette,
- Pietro Artoni,
- Nara Lygia de Macena Sobreira,
- Wai-Man Chan,
- Bryn D. Webb,
- Caroline D. Robson,
- Long Cheng,
- Carol Van Ryzin,
- Andres Ramirez-Martinez,
- Payam Mohassel,
- Mark Leppert,
- Mary Beth Scholand,
- Christopher Grunseich,
- Carlos R. Ferreira,
- Tyler Hartman,
- Ian M. Hayes,
- Tim Morgan,
- David M. Markie,
- Michela Fagiolini,
- Amy Swift,
- Peter S. Chines,
- Carlos E. Speck-Martins,
- Francis S. Collins,
- Ethylin Wang Jabs,
- Carsten G. Bönnemann,
- Eric N. Olson,
- Moebius Syndrome Research Consortium,
- John C. Carey,
- Stephen P. Robertson,
- Irini Manoli,
- Elizabeth C. Engle
Affiliations
- Silvio Alessandro Di Gioia
- Department of Neurology, Boston Children’s Hospital
- Samantha Connors
- Department of Women’s and Children’s Health, Dunedin School of Medicine, University of Otago
- Norisada Matsunami
- Department of Human Genetics, University of Utah School of Medicine
- Jessica Cannavino
- Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center
- Matthew F. Rose
- Department of Neurology, Boston Children’s Hospital
- Nicole M. Gilette
- Department of Neurology, Boston Children’s Hospital
- Pietro Artoni
- Department of Neurology, Boston Children’s Hospital
- Nara Lygia de Macena Sobreira
- Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
- Wai-Man Chan
- Department of Neurology, Boston Children’s Hospital
- Bryn D. Webb
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Caroline D. Robson
- Department of Radiology, Boston Children’s Hospital
- Long Cheng
- Department of Neurology, Boston Children’s Hospital
- Carol Van Ryzin
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- Andres Ramirez-Martinez
- Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center
- Payam Mohassel
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Mark Leppert
- Department of Human Genetics, University of Utah School of Medicine
- Mary Beth Scholand
- Department of Internal Medicine, University of Utah School of Medicine
- Christopher Grunseich
- Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Carlos R. Ferreira
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- Tyler Hartman
- Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Geisel School of Medicine
- Ian M. Hayes
- Genetic Health Services New Zealand, Auckland City Hospital
- Tim Morgan
- Department of Women’s and Children’s Health, Dunedin School of Medicine, University of Otago
- David M. Markie
- Department of Pathology, Dunedin School of Medicine, University of Otago
- Michela Fagiolini
- Department of Neurology, Boston Children’s Hospital
- Amy Swift
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- Peter S. Chines
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- Carlos E. Speck-Martins
- SARAH Network of Rehabilitation Hospitals
- Francis S. Collins
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- Ethylin Wang Jabs
- Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
- Carsten G. Bönnemann
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Eric N. Olson
- Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center
- Moebius Syndrome Research Consortium
- John C. Carey
- Department of Pediatrics, University of Utah School of Medicine
- Stephen P. Robertson
- Department of Women’s and Children’s Health, Dunedin School of Medicine, University of Otago
- Irini Manoli
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- Elizabeth C. Engle
- Department of Neurology, Boston Children’s Hospital
- DOI
- https://doi.org/10.1038/ncomms16077
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 16
Abstract
During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the disease variants in zebrafish.
