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.
Keywords
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Article info
Publication history
Accepted:
February 23,
2004
Received in revised form:
February 23,
2004
Received:
August 19,
2003
Footnotes
☆The paper is based on the lecture given at the 6th annual meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
