Novel NFIX variant in a patient with Malan syndrome and associated Chiari type I malformation: a case report
Background/objectives: variants in patients with CMI and underscores the potential benefit of early genetic testing for diagnosis and management. Case presentation: , not previously described in the literature. Conclusion: variant to CMI. The case underlines the importance to take into account MALNS in patients presenting with overgrowth and CMI. Furthermore, we report a novel variant to improve diagnostic accuracy and genotype-phenotype correlation. Indeed, timely molecular diagnosis is essential to differentiate among overgrowth syndromes and to establish appropriate long-term clinical follow-up.
Authors
- Michele Minerva
- Elisa Laschi (ORCID: https://orcid.org/0000-0002-6814-6781)
- Federica Lotti (ORCID: https://orcid.org/0000-0002-0395-7524)
- Salvatore Grosso (ORCID: https://orcid.org/0000-0002-0974-0596)
- Maria Rosaria Curcio
- Anna Maria Pinto (ORCID: https://orcid.org/0000-0001-6259-6901)
- Luisa Lonoce (ORCID: https://orcid.org/0000-0002-8768-2993)
- Filippo Toninelli
- Chiara Fallerini (ORCID: https://orcid.org/0000-0002-7386-3224)
- A. Francioni
- Lorenzo Perilli (ORCID: https://orcid.org/0000-0002-8630-6718)
- Alessandra Renieri
Institutions
- University of Siena (IT)
- Siena Biotech (Italy) (IT)
- Azienda Ospedaliera Universitaria Senese (IT)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- University of Genoa (IT)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2026-04-10
- DOI
- https://doi.org/10.3389/fped.2026.1794137
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00