Targeted gene(s)/phenotype under study
NSD1 gene (OMIM #606681)
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.
Pr Brigitte GILBERT-DUSSARDIER
Development Anomalies Expert Center
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : No
- Resampling of patients : No
- Linked to a translational/basic research project? No