Whole-exome sequencing identifies a novel NSD1 c.3910C>T variant causing Sotos syndrome
This project reports the identification of a novel de novo pathogenic variant in the NSD1 gene (c.3910C>T, p.Gln1304*) detected by whole-exome sequencing in a male pediatric patient with clinical features consistent with Sotos syndrome, including global developmental delay, distinctive facial features, and brain developmental abnormalities. The study contributes to expanding the mutation spectrum of NSD1 and provides valuable data for clinical diagnosis and genetic counseling of Sotos syndrome.