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

doi:10.1111/cge.14408

Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome

Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25.

Authors

Newell Belnap^{1

2}, Aiai Price-Smith¹, Keri Ramsey^{1

2}, Kamawela Leka¹, Anna Abraham¹, Emma Lieberman¹, Katie Hassett¹, Sai Potu¹, Natasha Rudy³, Kirstin Smith³, Fady M Mikhail³, Kirstin G Monaghan⁴, Andrea Hendershot⁴, Jeroen Mourmans⁵, Maria Descartes³, Matthew J Huentelman^{1

2}, Jennifer Sills⁶, Sampath Rangasamy^{1

2}, Vinodh Narayanan^{1

2}

Affiliations

¹ Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
² Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
³ Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
⁴ GeneDx, Gaithersburg, Maryland, USA.
⁵ Deventer Hospital, Deventer, The Netherlands.
⁶ CSNK2A1 Foundation, San Francisco, California, USA.

PMID: 37491870
DOI: 10.1111/cge.14408

Abstract

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.

Keywords: CSNK2A1; Okur-Chung neurodevelopmental syndrome; casein kinase 2; inherited variants; variable expressivity.

Publication types

Letter

Grants and funding

CSNK2A1 Foundation