Bibliographic Details
| Title: |
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes |
| Authors: |
Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi, Pio Adamo d’Adamo |
| Source: |
Brain Sciences, Vol 11, Iss 8, p 1105 (2021) |
| Publisher Information: |
MDPI AG, 2021. |
| Publication Year: |
2021 |
| Collection: |
LCC:Neurosciences. Biological psychiatry. Neuropsychiatry |
| Subject Terms: |
RSK2 gene, Coffin–Lowry syndrome, intellectual disability, kinase assay, functional assay, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2076-3425 |
| Relation: |
https://www.mdpi.com/2076-3425/11/8/1105; https://doaj.org/toc/2076-3425 |
| DOI: |
10.3390/brainsci11081105 |
| Access URL: |
https://doaj.org/article/1ab9071628f445a29991fbb01a1d7617 |
| Accession Number: |
edsdoj.1ab9071628f445a29991fbb01a1d7617 |
| Database: |
Directory of Open Access Journals |
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