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Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

Authors :
Rita Selvatici
Josef Vuch
Mariateresa Di Stazio
Stefania Bigoni
Sheila Ulivi
Pio D'Adamo
Nicola Iuso
Di Stazio, Mariateresa
Bigoni, Stefania
Iuso, Nicola
Vuch, Josef
Selvatici, Rita
Ulivi, Sheila
D’Adamo, Pio Adamo
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.

Details

Language :
English
ISSN :
20763425
Volume :
11
Issue :
1105
Database :
OpenAIRE
Journal :
Brain Sciences
Accession number :
edsair.doi.dedup.....aad40d637ccd65f9950f8dd4ef57cadc