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- Title
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.
- Authors
Marques Pereira, Patricia; Heron, Delphine; Hanauer, André
- Abstract
Heterogeneous mutations in the X-linked gene RPS6KA3, encoding the protein kinase RSK2, are responsible for Coffin-Lowry Syndrome. Here we have further studied a male patient with a highly suggestive clinical diagnosis of CLS but in whom no mutation was found by exon sequencing. Western blot analysis revealed a protein much larger than the normal expected size. Sequencing of the RSK2 cDNA, showed the presence of an in-frame tandem duplication of exons 17-20. The mutated RSK2 protein was found to be inactive in an in-vitro kinase assay. This event, which was the result of a homologous unequal recombination between Alu sequences, is the first reported large duplication of the RPS6KA3 gene. Our finding provides further evidence that immunoblot analysis, or a molecular assay capable to detect large genomic mutational events, is essential for patients with a highly suggestive CLS clinical diagnosis but remaining without mutation after exon sequencing.
- Publication
Human genetics, 2007, Vol 122, Issue 5, p541
- ISSN
1432-1203
- Publication type
Journal Article
- DOI
10.1007/s00439-007-0424-1