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Hum Genet. 2016 Jul;135(7):699-705. doi: 10.1007/s00439-016-1661-y. Epub 2016 Apr 5.

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Author information

1
Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.
2
GeneDx, Gaithersburg, MD, USA.
3
Carle Physician Group, Urbana, IL, USA.
4
Ochsner Clinic, New Orleans, LA, USA.
5
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
6
Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada.
7
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
8
Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA. wkc15@cumc.columbia.edu.
9
Department of Medicine, Columbia University Medical Center, New York, NY, USA. wkc15@cumc.columbia.edu.

Abstract

Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with a neurodevelopmental disorder associated with developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and dysmorphic features in whom we have identified de novo missense and canonical splice site mutations in CSNK2A1, the gene encoding CK2α, the catalytic subunit of protein kinase CK2, a ubiquitous serine/threonine kinase composed of two regulatory (β) and two catalytic (α and/or α') subunits. Somatic mutations in CSNK2A1 have been implicated in various cancers; however, this is the first study to describe a human condition associated with germline mutations in any of the CK2 subunits.

PMID:
27048600
DOI:
10.1007/s00439-016-1661-y
[Indexed for MEDLINE]

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