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Article

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

American journal of human genetics - 1 Dec 1998

Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J L, Sassone-Corsi P, Hanauer A

Abstract excerpt

Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations. By using a positional cloning approach, we have recently shown that mutations in the gene coding for the RSK2 serine-threonine protein kinase are responsible for this syndrome. To facilitate mutational analysis, we have now determined the...

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Identifiers

PMID: 9837815
DOI: 10.1086/302153
PMCID: PMC1377634

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Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.PMID 9837815Read ↗

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Coffin-Lowry syndrome: clinical and molecular features.Semantic proximity Read ↗

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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).Semantic proximity Read ↗

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