Aetiology

Sotos syndrome is inherited in an autosomal dominant manner. About 5% of individuals diagnosed with Sotos syndrome have an affected parent; approximately 95% of individuals have the disorder as the result of a de novo genetic alteration. Each child of an individual with Sotos syndrome has a 50% chance of inheriting the causative genetic alteration.

The gene underlying the majority of cases of Sotos syndrome is NSD1 (Nuclear receptor-binding SET domain containing protein).

Mutations and deletions in NSD1 on chromosome 5 are autosomal dominant.

Reference

1. Ocansey S et al. Sotos Syndrome. Gene Reviews. (online) Last updated June 2025