Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
Pathogenic variants in <i>PTEN</i> and <i>PPP2R5D</i> are the most recurrent gene mutations in a patient-oriented procedure for the genetic diagnosis of apparently idiopathic ASD and behaviour abnormalities associated with macrocephaly. The clinical applicability of the presented diagnostic strategy is discussed.
Authors
- Giuseppe Marangi (ORCID: https://orcid.org/0000-0002-6898-8882)
- Maria Grazia Pomponi (ORCID: https://orcid.org/0000-0002-0417-9939)
- Federica Francesca L’Erario
- Marcella Zollino (ORCID: https://orcid.org/0000-0003-4871-9519)
- Pietro Chiurazzi (ORCID: https://orcid.org/0000-0001-5104-1521)
- Paola D′Ambrosio (ORCID: https://orcid.org/0009-0009-0640-4923)
- Lorenzo Loberti (ORCID: https://orcid.org/0000-0001-5020-8393)
- Emanuela Lucci‐Cordisco (ORCID: https://orcid.org/0000-0002-6279-7604)
- Anna Gloria Renzi
- Marina Carapelle (ORCID: https://orcid.org/0000-0003-3066-5348)
- Valentina Trevisan (ORCID: https://orcid.org/0000-0002-9566-4971)
- Giuseppe Zampino (ORCID: https://orcid.org/0000-0002-2661-4831)
- Daniela Orteschi
- Chiara Veredice (ORCID: https://orcid.org/0000-0003-2267-8077)
- Annalisa Gazzellone (ORCID: https://orcid.org/0009-0000-2171-1563)
- Arianna Panfili (ORCID: https://orcid.org/0009-0007-4701-7845)
- Ilaria Contaldo (ORCID: https://orcid.org/0000-0002-6795-9641)
- Chiara Leoni (ORCID: https://orcid.org/0000-0002-4089-637X)
- Elena Sonnini
- Clarissa Modafferi (ORCID: https://orcid.org/0009-0004-6518-1700)
- Marta Palucci
Institutions
- University of Siena (IT)
- Università Cattolica del Sacro Cuore (IT)
- Agostino Gemelli University Polyclinic (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-04-20
- DOI
- https://doi.org/10.3390/genes16040469
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45