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Article

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).

European journal of human genetics : EJHG - 1 Jan 2002

Jacquot Sylvie, Zeniou Maria, Touraine Renaud, Hanauer André

Abstract excerpt

The Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation characterised in male patients by psychomotor and growth retardation, and various skeletal anomalies. CLS is caused by mutations in a gene located in Xp22.2 and encoding RSK2, a growth-factor regulated protein kinase. Mutations are extremely heterogeneous and lead to premature termination of translation and/or to loss of...

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Source

Identifiers

PMID: 11896450
DOI: 10.1038/sj.ejhg.5200738

Genes

MAPKAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).PMID 11896450Read ↗

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Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.Semantic proximity Read ↗

A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.Semantic proximity Read ↗

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