Back to Search
Start Over
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
- Source :
-
Human genetics [Hum Genet] 2016 Jul; Vol. 135 (7), pp. 699-705. Date of Electronic Publication: 2016 Apr 05. - Publication Year :
- 2016
-
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.
- Subjects :
- Adolescent
Body Dysmorphic Disorders physiopathology
Casein Kinase II genetics
Child
Child, Preschool
Exome genetics
Female
Genetic Predisposition to Disease
Germ-Line Mutation
High-Throughput Nucleotide Sequencing
Humans
Intellectual Disability pathology
Mutation
Neurodevelopmental Disorders physiopathology
Body Dysmorphic Disorders genetics
Intellectual Disability genetics
Neurodevelopmental Disorders genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-1203
- Volume :
- 135
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 27048600
- Full Text :
- https://doi.org/10.1007/s00439-016-1661-y