Closed

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

Contact: brigitte.gilbert-dussardier@chu-poitiers.fr       

Institution

Medical Genetics
Development Anomalies Expert Center
Universitary Hospital
Poitiers, France

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