Implication of missense variants in the NSD1 gene in Sotos-like phenotype

Targeted gene(s)/phenotype under study :

  • NSD1 gene (OMIM #606681)

Abstract :

Non-sens mutations in the NSD1 gene cause SOTOS Syndrome 1 (OMIM #117550) , characterized by overgrowth with advanced bone age, an unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies and seizures, and impaired intellectual development

We found a missense mutation in the NSD1 gene  in a boy with overgrowth syndrome, slight impaired intellectual development  but without the characteristic dysmorphy, a sort of “Sotos-like” syndrome.

We would like to ascertain these sort of variants in  the NSD1 gene as causative of this type of phenotype from other similar cases.

Coordinating clinicians/researchers:  Pr. Brigitte GILBERT-DUSSARDIER

Institution :

Medical Genetics

Development Anomalies Expert Center

Universitary Hospital

Poitiers, France

Contact :       

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples : N
  • Resampling of patients : N
  • Linked to a translational/basic research project? N