Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism
In combination with prior studies of WASH complex proteins, our findings provide evidence that the WASH complex is required for normal skeletal growth and that, consequently, genetic abnormalities impairing the function of the WASH complex (WASHopathy) cause short stature, as well as distinctive facies and variable neurodevelopmental abnormalities.
Authors
- James R. Lupski (ORCID: https://orcid.org/0000-0001-9907-9246)
- Jennifer E. Posey (ORCID: https://orcid.org/0000-0003-4814-6765)
- Ravi Bhatia (ORCID: https://orcid.org/0000-0001-5740-2316)
- Adrian Temnycky
- Ellen Leschek (ORCID: https://orcid.org/0000-0002-2594-9955)
- Clara van Karnebeek (ORCID: https://orcid.org/0000-0003-3352-5631)
- Hudson H. Freeze (ORCID: https://orcid.org/0000-0001-6316-0501)
- Machteld M. Oud (ORCID: https://orcid.org/0000-0003-4864-9346)
- Maaike C. de Vries (ORCID: https://orcid.org/0000-0003-4316-5481)
- Jeffrey Baron (ORCID: https://orcid.org/0000-0002-7311-9112)
- Dana Marafi (ORCID: https://orcid.org/0000-0003-2233-3423)
- Thomas C. Markello (ORCID: https://orcid.org/0000-0002-2298-9759)
- Ronald van Beek
- Robin Wijngaard
- Isabella Herman (ORCID: https://orcid.org/0000-0002-7359-6832)
- May Christine V. Malicdan (ORCID: https://orcid.org/0000-0003-1697-6959)
- Philip Whalen
- Zhi‐Jie Xia (ORCID: https://orcid.org/0000-0003-3018-1925)
- Hadil Alrohaif (ORCID: https://orcid.org/0000-0002-6980-6972)
- Julian C. Lui (ORCID: https://orcid.org/0000-0002-0611-4901)
- Kevin M. Barnes (ORCID: https://orcid.org/0000-0001-5699-4233)
- William A. Gahl (ORCID: https://orcid.org/0000-0002-2494-6752)
- Youn Hee Jee (ORCID: https://orcid.org/0000-0001-7227-5925)
- Annemarie de Vreugd
- Gene Elliot
- Elaine Zhou
Institutions
- National Institutes of Health (US)
- Boys Town (US)
- Children's National (US)
- Radboud University Nijmegen (NL)
- Baylor College of Medicine (US)
- Sanford Burnham Prebys Medical Discovery Institute (US)
- George Washington University (US)
- Discovery Institute (US)
- Radboud University Medical Center (NL)
- Kuwait University (KW)
- National Human Genome Research Institute (US)
- National Institute of Diabetes and Digestive and Kidney Diseases (US)
- Office of the Director (US)
- Boys Town National Research Hospital (US)
- Al-Sabah Hospital (KW)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- Texas Children's Hospital (US)
- Amsterdam University Medical Centers (NL)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2024-12-16
- DOI
- https://doi.org/10.1016/j.gimo.2024.101915
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Muscular Dystrophy Association
- George Washington University
- Texas Children's Hospital
- Johns Hopkins University
- Stichting Metakids
- Spastic Paraplegia Foundation
- Children's National Hospital
- Amsterdam University Medical Centers
- Radboud Universiteit
- Kuwait University
- Radboud Universitair Medisch Centrum
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institute of Neurological Disorders and Stroke
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development