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

Autor:	Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi, Pio Adamo d’Adamo
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	RSK2 gene Coffin–Lowry syndrome intellectual disability kinase assay functional assay Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Zdroj:	Brain Sciences, Vol 11, Iss 8, p 1105 (2021)
Druh dokumentu:	article
ISSN:	2076-3425
DOI:	10.3390/brainsci11081105
Popis:	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.
Databáze:	Directory of Open Access Journals
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