Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 May;176(5):1108-1114.
doi: 10.1002/ajmg.a.38610. Epub 2018 Jan 31.

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals

Ceris I Owen  1 , Ramsay Bowden  2 , Michael J Parker  3 , Jo Patterson  3 , Joan Patterson  2 , Sue Price  4 , Ajoy Sarkar  5 , Bruce Castle  6 , Charulatha Deshpande  7 , Miranda Splitt  8 , Neeti Ghali  9 , John Dean  10 , Andrew J Green  11 , Charlene Crosby  12 ; Deciphering Developmental Disorders Study  13 ; Katrina Tatton-Brown  12   14
Affiliations

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals

Ceris I Owen et al. Am J Med Genet A. 2018 May.

Abstract

Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. More recently, through trio-based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients. Consistent with previously reported patients, patients in this series had apparent intellectual disability, swallowing difficulties, and hypotonia. While there are some shared facial characteristics, the gestalt is neither consistent nor readily recognized. Congenital heart abnormalities were identified in nearly 30% of the patients, representing a newly recognized CSNK2A1 clinical association. Based upon the clinical findings from this study and the previously reported patients, we suggest an initial approach to the management of patients with this recently described intellectual disability syndrome.

Keywords: CSNK2A1; DDD study; Okur-Chung; intellectual disability; protein kinase CK2.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

LinkOut - more resources