Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation

Giulia Pascolini, Federica Gaudioso, Chiara Passarelli, Antonio Novelli, Niccolò Di Giosaffatte, Silvia Majore, Paola Grammatico

Research output: Contribution to journalArticlepeer-review


X-linked intellectual disability can be diagnosed in about 10-12% of intellectually disabled males. In the past, mutations affecting the PAK3 gene (p21 protein-activated kinase 3, MIM#300142) have been associated with a non-syndromic form of X-linked intellectual disability, which has to date been identified in a limited number of families.Since this neurodevelopmental disorder mostly afflicts males, descriptions of symptomatic female carriers are quite rare.We describe a female patient with neurodevelopmental delay and a novel PAK3 variant. Interestingly, she manifests craniofacial anomalies, including microcephaly, representing the second reported microcephalic female but the first for whom a detailed clinical description is available. She also displays other uncommon clinical findings, which we illustrate.Moreover, a comprehensive clinical and molecular review of all to date published patients has been made. This study contributes to further delineate the PAK3-related phenotype, which can be considered a non-syndromic X-linked intellectual disability, with seemingly recurrent craniofacial abnormalities.

Original languageEnglish
Pages (from-to)2474-2481
Number of pages8
JournalJournal of Molecular Neuroscience
Issue number12
Publication statusPublished - Dec 2021


  • Child, Preschool
  • Developmental Disabilities/genetics
  • Female
  • Humans
  • Intellectual Disability/genetics
  • Microcephaly/genetics
  • Mutation
  • Phenotype
  • p21-Activated Kinases/genetics


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