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Article

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Human mutation - 1 Feb 2001

Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A

Abstract excerpt

RSK2 is a growth factor-regulated serine-threonine protein kinase, acting in the Ras-Mitogen-Activated Protein Kinase (MAPK) signaling pathway. Mutations in the RSK2 gene (RPS6KA3) on chromosome Xp22.2, have been found to cause Coffin-Lowry syndrome (CLS), an X-linked disorder characterized by psychomotor retardation, characteristic facial and digital abnormalities, and progressive skeletal deformations. By...

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Source

Identifiers

PMID: 11180593
DOI: 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.PMID 11180593Read ↗

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.Semantic proximity Read ↗

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

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

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Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).Semantic proximity Read ↗

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.Semantic proximity Read ↗

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Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.Semantic proximity Read ↗

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RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.Semantic proximity Read ↗

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.Semantic proximity Read ↗

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.Semantic proximity Read ↗

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