Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.
Nicolle D Becerra Páez, Dubán S Hernández Rodríguez, Leidy A Forero Cisneros et al.
✦ AI-curated · Sources linked
Case in brief
An 11-year-old girl presented with overgrowth, typical craniofacial features, global neurodevelopmental delay, and borderline intelligence. Genetic testing revealed a de novo nonsense variant in the NSD1 gene, confirmed by family analysis. The patient also exhibited hypotonia, hypoglycemia, neonatal jaundice, strabismus, scoliosis, seizures, and attention-deficit disorder, contributing to the understanding of Sotos syndrome's phenotypic spectrum.
What made this case unusual
The identified de novo nonsense variant in the NSD1 gene (NM_022455.5:c.1782dup p.(Glu595Ter)) has not been previously described in the literature.
Diagnostic / clinical pearl
Clinicians should consider Sotos syndrome in patients with overgrowth and characteristic facial features, especially when accompanied by neurodevelopmental delays.
Why it matters
This case emphasizes the importance of genetic testing in confirming diagnoses and guiding comprehensive care for patients with Sotos syndrome.