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Coffin-Lowry syndrome.

ABSTRACT: Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. CLS is caused by mutations in the RPS6KA3 gene located at Xp22.2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase, most often because of premature termination of translation.

SUBMITTER: Pereira PM 

PROVIDER: S-EPMC2987346 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature

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Coffin-Lowry syndrome.

Pereira Patricia Marques PM   Schneider Anne A   Pannetier Solange S   Heron Delphine D   Hanauer André A  

European journal of human genetics : EJHG 20091104 6

Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. CLS is caused by mutations in the RPS6KA3 gene located at Xp22.2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of ph  ...[more]

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