Back to Search
Start Over
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes
- Source :
- Brain Sciences, Vol 11, Iss 1105, p 1105 (2021), Brain Sciences, Volume 11, Issue 8
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features. Methods: In the present study, an unreported missense genetic variant of the ribosomal S6 kinase 2 (RSK2) gene has been identified, by next-generation sequencing, in two related males with two different phenotypes of intellectual disability (ID) and peculiar facial dysmorphisms. We performed functional studies on this variant and another one, already reported in the literature, involving the same amino acid residue but, to date, without an efficient characterization. Results: Our study demonstrated that the two variants involving residue 189 significantly impaired its kinase activity. Conclusions: We detected a loss-of-function RSK2 mutation with loss in kinase activity in a three-generation family with an X-linked ID.
- Subjects :
- kinase assay
Socio-culturale
coffin
RSK2 gene
Neurosciences. Biological psychiatry. Neuropsychiatry
Biology
functional assay
intellectual disability
lowry syndrome
rsk2 gene
medicine.disease_cause
Coffin–Lowry syndrome
Ribosomal s6 kinase
Intellectual disability
medicine
Missense mutation
Kinase activity
Gene
Genetics
Mutation
General Neuroscience
medicine.disease
Phenotype
biology.protein
Functional assay
Kinase assay
RC321-571
Subjects
Details
- Language :
- English
- ISSN :
- 20763425
- Volume :
- 11
- Issue :
- 1105
- Database :
- OpenAIRE
- Journal :
- Brain Sciences
- Accession number :
- edsair.doi.dedup.....aad40d637ccd65f9950f8dd4ef57cadc