Nature Communications (Jul 2020)
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
- Yu-Ri Lee,
- Kamal Khan,
- Kim Armfield-Uhas,
- Sujata Srikanth,
- Nicola A. Thompson,
- Mercedes Pardo,
- Lu Yu,
- Joy W. Norris,
- Yunhui Peng,
- Karen W. Gripp,
- Kirk A. Aleck,
- Chumei Li,
- Ed Spence,
- Tae-Ik Choi,
- Soo Jeong Kwon,
- Hee-Moon Park,
- Daseuli Yu,
- Won Do Heo,
- Marie R. Mooney,
- Shahid M. Baig,
- Ingrid M. Wentzensen,
- Aida Telegrafi,
- Kirsty McWalter,
- Trevor Moreland,
- Chelsea Roadhouse,
- Keri Ramsey,
- Michael J. Lyons,
- Cindy Skinner,
- Emil Alexov,
- Nicholas Katsanis,
- Roger E. Stevenson,
- Jyoti S. Choudhary,
- David J. Adams,
- Cheol-Hee Kim,
- Erica E. Davis,
- Charles E. Schwartz
Affiliations
- Yu-Ri Lee
- Department of Biology, Chungnam National University
- Kamal Khan
- Center for Human Disease Modeling, Duke University Medical Center
- Kim Armfield-Uhas
- Children’s Healthcare of Atlanta
- Sujata Srikanth
- Greenwood Genetic Center
- Nicola A. Thompson
- Wellcome Sanger Institute
- Mercedes Pardo
- Chester Beatty Laboratories, Institute of Cancer Research
- Lu Yu
- Chester Beatty Laboratories, Institute of Cancer Research
- Joy W. Norris
- Greenwood Genetic Center
- Yunhui Peng
- Department of Physics, Clemson University
- Karen W. Gripp
- Division of Medical Genetics, A. I. duPont Hospital for Children
- Kirk A. Aleck
- Genetics and Metabolism, Phoenix Children’s Medical Group
- Chumei Li
- Clinical Genetics Program, McMaster University Medical Center
- Ed Spence
- Division of Pediatric Genetics and Metabolism, University of North Carolina School of Medicine
- Tae-Ik Choi
- Department of Biology, Chungnam National University
- Soo Jeong Kwon
- Department of Microbiology and Molecular Biology, Chungnam National University
- Hee-Moon Park
- Department of Microbiology and Molecular Biology, Chungnam National University
- Daseuli Yu
- Department of Biological Sciences, Korea Advanced Institute of Science and Technology
- Won Do Heo
- Department of Biological Sciences, Korea Advanced Institute of Science and Technology
- Marie R. Mooney
- Center for Human Disease Modeling, Duke University Medical Center
- Shahid M. Baig
- Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE)
- Ingrid M. Wentzensen
- GeneDx Inc
- Aida Telegrafi
- GeneDx Inc
- Kirsty McWalter
- GeneDx Inc
- Trevor Moreland
- Greenwood Genetic Center
- Chelsea Roadhouse
- Clinical Genetics Program, McMaster University Medical Center
- Keri Ramsey
- Center for Rare Childhood Disorders, TGen
- Michael J. Lyons
- Greenwood Genetic Center
- Cindy Skinner
- Greenwood Genetic Center
- Emil Alexov
- Department of Physics, Clemson University
- Nicholas Katsanis
- Center for Human Disease Modeling, Duke University Medical Center
- Roger E. Stevenson
- Greenwood Genetic Center
- Jyoti S. Choudhary
- Chester Beatty Laboratories, Institute of Cancer Research
- David J. Adams
- Wellcome Sanger Institute
- Cheol-Hee Kim
- Department of Biology, Chungnam National University
- Erica E. Davis
- Center for Human Disease Modeling, Duke University Medical Center
- Charles E. Schwartz
- Greenwood Genetic Center
- DOI
- https://doi.org/10.1038/s41467-020-17452-6
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 17
Abstract
Armfield X-linked disability (XLID) disorder has previously been linked to a locus in Xq28. Here, the authors report rare missense variants in FAM50A at Xq28, show that FAM50A interacts with the spliceosome, and that mis-splicing is enriched in knockout zebrafish suggesting it is a spliceosomopathy.
