Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features
Patients described in the literature with SHAPNS are reported indicating a broad spectrum of clinical manifestations. The present patient manifests an atypical presentation of SHAPNS due to a novel heterozygous <i>ASXL2</i> variant. This study supports the inclusion of SHAPNS in overgrowth disorders with macrocephaly, suggesting the analysis of the <i>ASXL2</i> gene even in suspected subjects with normal bone age and confirms dental anomalies as a clinical feature of this syndrome. SHAPNS could be inferred even in the absence of developmental delay or epilepsy.
Authors
- M. Cristina Digilio (ORCID: https://orcid.org/0000-0002-9168-3606)
- Bruno Dallapiccola (ORCID: https://orcid.org/0000-0002-5031-1013)
- Antonio Novelli (ORCID: https://orcid.org/0000-0002-9037-4297)
- Lorenzo Sinibaldi (ORCID: https://orcid.org/0000-0002-1371-936X)
- Valentina Lanari
- Maria Lisa Dentici (ORCID: https://orcid.org/0000-0002-9505-5906)
- Chiara Minotti (ORCID: https://orcid.org/0000-0001-8616-5065)
- Rossella Capolino
- Ludovico Graziani (ORCID: https://orcid.org/0000-0002-7217-7388)
- Alessia Micalizzi (ORCID: https://orcid.org/0000-0001-9927-5781)
- Giuseppe Novelli (ORCID: https://orcid.org/0000-0002-7781-602X)
Institutions
- University of Rome Tor Vergata (IT)
- Bambino Gesù Children's Hospital (IT)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-10-10
- DOI
- https://doi.org/10.1159/000541070
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00