RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

Abstract

Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditory stimuli. We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with drop episodes. All mutations in our patient and those previously reported in patients with drop episodes result in premature truncation of the RSK2 protein in the N-terminal kinase domain or upstream of this domain.

• Authors: Miki Nakamura, Takanori Yamagata, Masato Mori, Mariko Y Momoi
• Journal: Brain & development (Brain Dev) Vol. 27 Issue 2 Pg. 114-7 (Mar 2005) ISSN: 0387-7604 [Print] Netherlands
• PMID: 15668050 (Publication Type: Case Reports, Journal Article)

Chemical References

• Ribosomal Protein S6 Kinases, 90-kDa
• ribosomal protein S6 kinase, 90kDa, polypeptide 3

Topics

• Adult
• Base Sequence
• Coffin-Lowry Syndrome (complications, genetics)
• DNA Mutational Analysis
• Female
• Genotype
• Humans
• Mutation
• Polymerase Chain Reaction
• Ribosomal Protein S6 Kinases, 90-kDa (genetics)
• Syncope (etiology)