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Article

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

Human molecular genetics - 1 Jul 2014

Magini Pamela, Pippucci Tommaso, Tsai I-Chun, Coppola Simona, Stellacci Emilia, Bartoletti-Stella Anna, Turchetti Daniela, Graziano Claudio, Cenacchi Giovanna, Neri Iria, Cordelli Duccio Maria, Marchiani Valentina, Bergamaschi Rosalba, Gasparre Giuseppe, Neri Giovanni, Mazzanti Laura, Patrizi Annalisa, Franzoni Emilio, Romeo Giovanni, Bordo Domenico, Tartaglia Marco, Katsanis Nicholas, Seri Marco

Abstract excerpt

Loss-of-function mutations in PAK3 contribute to non-syndromic X-linked intellectual disability (NS-XLID) by affecting dendritic spine density and morphology. Linkage analysis in a three-generation family with affected males showing ID, agenesis of corpus callosum, cerebellar hypoplasia, microcephaly and ichthyosis, revealed a candidate disease locus in Xq21.33q24 encompassing over 280 genes. Subsequent to...

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Identifiers

PMID: 24556213
DOI: 10.1093/hmg/ddu070

Genes

PAK3

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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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