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Am J Med Genet A. 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.

Author information

1
Medical Research Council, London Institute for Medical Sciences, Hammersmith Hospital, London, UK.
2
East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
3
Sheffield Children's NHS Foundation Trust, Sheffield Clinical Genetics Service, Sheffield, South Yorkshire, UK.
4
Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
5
Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
6
Peninsula Genetics Service, Royal Devon and Exeter Hospitals NHS Trust, Exeter, UK.
7
South East Thames Regional Genetics Unit, Guys and St Thomas NHS Trust, London, UK.
8
Northern Genetics Service, Newcastle Upon Tyne Hospital NHS Foundation Trust, Newcastle, UK.
9
North West Thames Regional Genetics Service, North West London Healthcare NHS Trust, Harrow, UK.
10
Department of Clinical Genetics, NHS Grampian, Aberdeen, UK.
11
National Centre for Medical Genetics, Our Lady's Hospital, Dublin, Republic of Ireland.
12
South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
13
Deciphering Developmental Disorders Study, Wellcome Trust Sanger Institute, Cambridge, UK.
14
St George's University of London, London, UK.

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

PMID:
29383814
DOI:
10.1002/ajmg.a.38610
[Indexed for MEDLINE]

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