A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

• Main Authors: Gianluigi Laccetta (Author), Francesca Moscuzza (Author), Angela Michelucci (Author), Andrea Guzzetta (Author), Sara Lunardi (Author), Francesca Lorenzoni (Author), Paolo Ghirri (Author)
• Format: Book
• Published: Frontiers Media S.A., 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50...