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Article

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.

Nature - 12 Dec 1996

Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel J L, Sassone-Corsi P, Hanauer A

Abstract excerpt

The Coffin-Lowry syndrome (CLS), an X-linked disorder, is characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations. Genetic linkage analysis mapped the CLS locus to an interval of 2-3 megabases at Xp22.2. The gene coding for Rsk-2, a member of the growth-factor-regulated protein kinases, maps within the candidate interval, and was tested as a...

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Identifiers

PMID: 8955270
DOI: 10.1038/384567a0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.PMID 8955270Read ↗

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

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

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.Semantic proximity Read ↗

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

Coffin-Lowry syndrome: clinical and molecular features.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 ↗

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.Semantic proximity Read ↗

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

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

Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning.Semantic proximity Read ↗

Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.Semantic proximity Read ↗

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