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Article

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

American journal of medical genetics. Part A - 15 Jun 2006

Wang Yueying, Martinez Jose E, Wilson Glen L, He Xi-Yu, Tuck-Muller Cathy M, Maertens Paul, Wertelecki Wladimir, Chen Tian-Jian

Abstract excerpt

Coffin-Lowry syndrome (CLS) is an X-linked mental retardation syndrome caused by defects in the RSK2 gene. We have identified a CLS family with four patients in two generations. The patients in this family, a mother and her three children (a male and two females), all have severe mental retardation with the typical CLS phenotype. In addition, brain MRI studies on the three siblings revealed abnormalities in deep...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16691578
DOI: 10.1002/ajmg.a.31266

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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.

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A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.PMID 16691578Read ↗

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

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Mutations in the X-linked 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 ↗

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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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