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

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 un...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2018-05, Vol.176 (5), p.1108-1114
Main Authors: Owen, Ceris I., Bowden, Ramsay, Parker, Michael J., Patterson, Jo, Patterson, Joan, Price, Sue, Sarkar, Ajoy, Castle, Bruce, Deshpande, Charulatha, Splitt, Miranda, Ghali, Neeti, Dean, John, Green, Andrew J., Crosby, Charlene, Tatton‐Brown, Katrina
Format: Article
Language:English
Subjects:
Alleles
Amino Acid Motifs
Amino Acid Sequence
Amino Acid Substitution
Casein kinase II
Casein Kinase II - chemistry
Casein Kinase II - genetics
Child
Children
CSNK2A1
Csnk2a1 gene
DDD study
Exons
Facies
Female
Humans
Intellectual disabilities
intellectual disability
Kinases
Male
Mutation
Neurodevelopmental disorders
Neurodevelopmental Disorders - diagnosis
Neurodevelopmental Disorders - genetics
Okur–Chung
Phenotype
Phenotypes
Phenotyping
Protein Binding
Protein Interaction Domains and Motifs
Protein kinase C
protein kinase CK2
Swallowing
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.38610