Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Newell Belnap, Aiai Price-Smith, Keri Ramsey, Kamawela Leka, Anna Abraham, Emma Lieberman, Katie Hassett, Sai Potu, Natasha Rudy, Kirstin Smith, Fady M Mikhail, Kirstin G Monaghan, Andrea Hendershot, Jeroen Mourmans, Maria Descartes, Matthew J Huentelman, Jennifer Sills, Sampath Rangasamy, Vinodh Narayanan
Author Information
Newell Belnap: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Aiai Price-Smith: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Keri Ramsey: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Kamawela Leka: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Anna Abraham: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Emma Lieberman: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Katie Hassett: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Sai Potu: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Natasha Rudy: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Kirstin Smith: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Fady M Mikhail: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Kirstin G Monaghan: GeneDx, Gaithersburg, Maryland, USA.
Andrea Hendershot: GeneDx, Gaithersburg, Maryland, USA.
Jeroen Mourmans: Deventer Hospital, Deventer, The Netherlands.
Maria Descartes: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Matthew J Huentelman: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Jennifer Sills: CSNK2A1 Foundation, San Francisco, California, USA.
Sampath Rangasamy: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. ORCID
Vinodh Narayanan: Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.
Okur V, Cho MT, Henderson L, et al. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016;135:699-705. doi:10.1007/s00439-016-1661-y
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