Targeted gene under study
OMIM # 617253 and ORPHA code: 436182
NSMCE2 is a SUMO ligase, required for DNA repair and prevention of DNA damage-induced apoptosis, that has only recently been associated with a autosomal recessive primordial dwarfism characterized by severe pre- and postnatal growth failure with short stature, microcephaly, facial dysmorphism, severe insulin resistance, fatty liver, hypertriglyceridemia, and primary gonadal failure. Until now only 2 individuals from two unrelated families have been identified in the literature (Payne et al. 2014 – PMID: 25105364).
With this collaboration, we aim to better delineate the clinical and molecular spectrum of NSMCE2-related disorder. We plan to collect clinical data, neuroimaging, and neurophysiological information, as well as clinical pictures for dysmorphological assessment.
Service de médecine génomique des maladies rares – CRMR MOC, Filière OSCAR – Lab 318, INSERM UMR1163 – Université Paris Cité – Institut Imagine – Hôpital Necker-Enfants Malades
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